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

35 papers

NM_007294.4

p.C61Y

c.182G>A

Surrounding Variants

5 papers

NM_007294.4

p.C61F

c.182G>T

2 papers

NM_007294.4

p.C61insFs

c.182_183insT

21 papers

NM_007294.4

p.C61S

c.182G>C

1 paper

NM_007294.4

p.C61delins

c.181_182delinsGC

1 paper

NM_007294.4

p.C61insFs

c.182dupG

1 paper

NM_007294.4

p.C61fs

c.181_182fs

1 paper

NM_007294.4

p.C61_P62insA

c.181_185ins3

981 papers

NM_007294.4

p.C61G

c.181T>G

NM_007297.4

p.C14G

c.40T>G

6 papers

NM_007294.4

p.C61W

c.183T>G

36 papers

NM_007294.4

p.C61R

c.181T>C

1 paper

NM_007294.4

p.C61C

c.183T>C

27 papers

NM_007294.4

p.C61S

c.181T>A