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

7 papers

NM_007294.4

p.E237K

c.709G>A

Surrounding Variants

3 papers

NM_007294.4

p.E237*

c.709G>T

3 papers

NM_007294.4

p.T236T

c.708T>C

1 paper

NM_007294.4

p.T236T

c.708T>A

2 papers

NM_007294.4

p.T236delFs

c.707delG

1 paper

NM_007294.4

p.E237G

c.710A>G

2 papers

NM_007294.4

p.E237A

c.710A>C

3 papers

NM_007294.4

p.T236I

c.707C>T

2 papers

NM_007294.4

p.T236S

c.707C>G

2 papers

NM_007294.4

p.T234_N235delFs

c.702_705del4

1 paper

NM_007297.4

p.T187_T189delFs

c.559_565del7

1 paper

NM_007294.4

p.E237D

c.711A>T

2 papers

NM_007294.4

p.E237E

c.711A>G