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

1 paper

NM_007294.4

p.E624_L625del2

c.1870_1874del6

Surrounding Variants

5 papers

NM_007294.4

p.V626G

c.1877T>G

1 paper

NM_007294.4

p.V626A

c.1877T>C

1 paper

NM_007294.4

p.V626L

c.1876G>T

1 paper

NM_007294.4

p.V626L

c.1876G>C

8 papers

NM_007294.4

p.V626V

c.1878A>G

15 papers

NM_007294.4

p.V626_V627insFs

c.1878_1879ins4

1 paper

NM_007294.4

p.V626fs

c.1876_1877fs

1 paper

NM_007294.4

p.V626delFs

c.1877delA

1 paper

NM_007294.4

p.V627insFs

c.1879_1880insCC

1 paper

NM_007294.4

p.V626insFs

c.1878dupA

19 papers

NM_007294.4

p.V627I

c.1879G>A

4 papers

NM_007294.4

p.V627fs

c.1879_1880fs