Varaico: Literature-Extracted Genetic Variants

BRCA1

8,702 papers

RefSeq Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of ...

Pfam Domains

zf-RING_UBOXaa 24–52UCSCRING-type zinc-finger

zf-C3HC4aa 24–64UCSCZinc finger, C3HC4 type (RING finger)

BRCT_assocaa 345–508UCSCSerine-rich domain associated with BRCT

BRCTaa 1642–1723UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 1756–1842UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

BRCA1 DNA repair associated

HGNC Alias Symbols

RNF53; BRCC1; PPP1R53; FANCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_007294.4

p.G1515R

c.4543G>C

Surrounding Variants

2 papers

NM_007294.4

p.G1515R

c.4543G>A

1 paper

NM_007294.4

p.S1514delFs

c.4542delA

1 paper

NM_007294.4

p.C1513_S1514delFs

c.4539_4542del4

1 paper

NM_007294.4

p.G1515A

c.4544G>C

8 papers

NM_007294.4

p.G1515E

c.4544G>A

1 paper

NM_007294.4

p.G1515_S1516insFs

c.4545_4546insA

5 papers

NM_007294.4

p.S1514F

c.4541C>T

2 papers

NM_007294.4

p.S1514P

c.4540T>C

1 paper

NM_007294.4

p.S1516fs

c.4546_4547fs

1 paper

NM_007294.4

p.S1516C

c.4546A>T

1 paper

NM_007294.4

p.S1516G

c.4546A>G

1 paper

NM_007294.4

p.S1516R

c.4546A>C