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PharmGKB contains no clinical annotations for this gene. To report clinical variants, click here.
PharmGKB contains no genetic tests for this gene. To report genetic tests, click here.
The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.
The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page.
Links in the "Drugs" column lead to PharmGKB Drug Pages.
|
Variant?
(build 132) |
Alternate Names ? | Drugs ? | Alleles ? | Function ? |
Amino Acid?
Translation |
|
|---|---|---|---|---|---|---|
| chr17:41276046 | ||||||
| chr17:41209080 |
Overview
| Alternate Names: | BRCA1/BRCA2-containing complex, subunit 1; OTTHUMP00000212147; OTTHUMP00000212148; OTTHUMP00000212149; OTTHUMP00000212150; OTTHUMP00000212151; OTTHUMP00000212155; RING finger protein 53; breast and ovarian cancer susceptibility protein 1; breast and ovarian cancer sususceptibility protein; breast cancer type 1 susceptibility protein; breast-ovarian cancer, included |
|---|---|
| Alternate Symbols: | BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PSCP; RNF53 |
| Haplotypes: | BRCA1 1; BRCA1 1#; BRCA1 2; BRCA1 2#; BRCA1 3; BRCA1 3#; BRCA1 4; BRCA1 4#; BRCA1 5; BRCA1 5#; BRCA1 6; BRCA1 7; BRCA1 8; BRCA1 9; BRCA1 10 |
| PharmGKB Accession Id: | PA25411 |
Details
| Cytogenetic Location: | chr17 : q21.31 - q21.31 |
|---|---|
| GP mRNA Boundary†: | chr17 : 41196314 - 41277468 |
| GP Gene Boundary†: | chr17 : 41193314 - 41287468 |
| Strand: | minus |
| Product Name: | breast and ovarian cancer susceptibility protein, breast and ovarian cancer susceptibility protein 1, breast and ovarian cancer suseptibility protein variant, breast cancer 1, early onset, breast cancer 1, early onset isoform 1, breast cancer 1, early onset isoform BRCA1-delta11, breast cancer 1, early onset isoform BRCA1-delta11b, breast cancer 1, early onset isoform BRCA1-delta14-17, breast cancer 1, early onset isoform BRCA1-delta14-18, breast cancer 1, early onset isoform BRCA1-delta15-17, breast cancer 1, early onset isoform BRCA1-delta2-10, breast cancer 1, early onset isoform BRCA1-delta9-10, breast cancer 1, early onset isoform BRCA1-delta9-10-11b, breast cancer 1, early onset isoform BRCA1-delta9-11, breast cancer 1, early onset isoform BRCA1-exon4 |
All alleles are displayed on the positive chromosomal strand.
| Haplotype | rs1060915 | rs12516 | rs16940 | rs16941 | rs16942 | rs17599948 | rs1799949 | rs1799966 | rs3092995 | rs4986850 | rs4986852 | rs799912 | rs799917 | rs8176318 | rs9908805 | rs9911630 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BRCA1 1 | A | G | A | T | T | A | G | T | C | C | C | C | G | C | T | G |
| BRCA1 1# | G | G | A | T | T | A | G | T | C | C | C | C | G | C | T | G |
| BRCA1 2 | G | G | G | C | C | A | A | C | C | C | C | C | A | C | T | G |
| BRCA1 2# | G | G | A | T | T | G | G | T | C | C | C | C | G | C | T | G |
| BRCA1 3 | G | G | A | T | T | A | G | C | C | C | C | C | G | C | T | G |
| BRCA1 3# | G | G | A | T | T | A | G | T | C | C | C | C | G | A | T | G |
| BRCA1 4 | A | G | A | T | T | A | G | T | C | C | C | C | G | C | T | G |
| BRCA1 4# | G | G | A | T | T | G | G | T | C | C | C | C | G | A | T | G |
| BRCA1 5 | A | G | A | T | T | A | G | T | C | C | T | C | G | C | T | G |
| BRCA1 5# | G | A | A | T | T | G | G | T | C | C | C | T | G | A | T | G |
| BRCA1 6 | G | G | G | C | C | A | A | C | C | T | C | C | A | C | T | G |
| BRCA1 7 | G | G | G | C | C | A | A | C | C | T | C | C | A | C | T | G |
| BRCA1 8 | A | G | A | T | T | A | G | T | C | C | C | C | A | C | T | G |
| BRCA1 9 | A | G | A | T | C | A | A | C | C | C | C | C | A | C | T | G |
| BRCA1 10 | G | G | A | C | T | A | G | C | C | C | C | C | G | C | T | G |
PharmGKB Curated Pathways
Pathways created internally by PharmGKB based primarily on literature evidence.
-
Caffeine Pathway, Pharmacokinetics
Stylized liver cell showing candidate genes involved in the metabolism of caffeine.
External Pathways
Links to non-PharmGKB pathways.
- ATM mediated phosphorylation of repair proteins - (Reactome via Pathway Interaction Database)
- atm signaling pathway - (BioCarta via Pathway Interaction Database)
- Aurora A signaling - (Pathway Interaction Database NCI-Nature Curated)
- BARD1 signaling events - (Pathway Interaction Database NCI-Nature Curated)
- brca1 dependent ub ligase activity - (BioCarta via Pathway Interaction Database)
- cell cycle: g2/m checkpoint - (BioCarta via Pathway Interaction Database)
- Coregulation of Androgen receptor activity - (Pathway Interaction Database NCI-Nature Curated)
- FOXA1 transcription factor network - (Pathway Interaction Database NCI-Nature Curated)
- Recruitment of repair and signaling proteins to double-strand breaks - (Reactome via Pathway Interaction Database)
- role of brca1 brca2 and atr in cancer susceptibility - (BioCarta via Pathway Interaction Database)
LinkOuts
- Entrez Gene:
- 672
- OMIM:
- 113705
- 604370
- UCSC Genome Browser:
- NM_007294
- RefSeq RNA:
- NM_007294
- NM_007295
- NM_007296
- NM_007297
- NM_007298
- NM_007299
- NM_007300
- NM_007302
- NM_007303
- NM_007304
- NM_007305
- NR_027676
- RefSeq Protein:
- NP_009225
- NP_009226
- NP_009227
- NP_009228
- NP_009229
- NP_009230
- NP_009231
- NP_009233
- NP_009234
- NP_009235
- NP_009236
- RefSeq DNA:
- AC_000060
- AC_000149
- NC_000017
- NG_005905
- NT_010783
- NW_001838436
- NW_926828
- UniProtKB:
- BRCA1_HUMAN (P38398)
- Q1RMC1_HUMAN (Q1RMC1)
- Q3LRJ6_HUMAN (Q3LRJ6)
- Q6IN79_HUMAN (Q6IN79)
- Ensembl:
- ENSG00000012048
- GenAtlas:
- BRCA1
- GeneCard:
- GC17M041197 (672)
- SOURCE:
- BRCA1
- MutDB:
- BRCA1
Common Searches
Non-Curated Publications
A list of non-curated publications that mention this gene is available.