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

30 papers

NM_007294.4

p.W1712*

c.5136G>A

Surrounding Variants

4 papers

NM_007294.4

p.W1712C

c.5136G>T

1 paper

NM_007294.4

p.W1712fs

c.5134_5135fs

3 papers

NM_007294.4

p.W1712C

c.5136G>C

11 papers

NM_007294.4

p.V1713L

c.5137G>T

3 papers

NM_007294.4

p.W1712L

c.5135G>T

11 papers

NM_007294.4

p.V1713L

c.5137G>C

3 papers

NM_007294.4

p.W1712S

c.5135G>C

26 papers

NM_007294.4

p.W1712*

c.5135G>A

11 papers

NM_007294.4

p.V1713I

c.5137G>A

4 papers

NM_007294.4

p.V1713fs

c.5137_5138fs

1 paper

NM_007294.4

p.V1713insFs

c.5137dupG

1 paper

NM_007294.4

p.K1711insFs

c.5133dupA