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.T499T

c.1497A>G

Surrounding Variants

1 paper

NM_007294.4

p.T499insFs

c.1496dupC

1 paper

NM_007294.4

p.T499delFs

c.1496delG

1 paper

NM_007294.4

p.N500fs

c.1498_1499fs

3 papers

NM_007294.4

p.T499I

c.1496C>T

1 paper

NM_007294.4

p.T499K

c.1496C>A

2 papers

NM_007294.4

p.N500D

c.1498A>G

1 paper

NM_007294.4

p.T499delFs

c.1496_1497delTG

1 paper

NM_007294.4

p.L498_N500Fs

c.1493_1498delinsACACFs

1 paper

NM_007294.4

p.T499S

c.1495A>T

2 papers

NM_007294.4

p.N500S

c.1499A>G

1 paper

NM_007294.4

p.L498delFs

c.1493_1494delGA

1 paper

NM_007294.4

p.T499fs

c.1495_1496fs