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

52 papers

NM_007294.4

p.S1715N

c.5144G>A

Surrounding Variants

7 papers

NM_007294.4

p.S1715I

c.5144G>T

5 papers

NM_007294.4

p.S1715T

c.5144G>C

2 papers

NM_007294.4

p.S1715S

c.5145C>T

71 papers

NM_007294.4

p.S1715R

c.5145C>G

72 papers

NM_007294.4

p.S1715R

c.5145C>A

1 paper

NM_007294.4

p.S1715fs

c.5143_5144fs

2 papers

NM_007294.4

p.V1714_S1715delFs

c.5141_5144del4

32 papers

NM_007294.4

p.S1715C

c.5143A>T

7 papers

NM_007294.4

p.S1715G

c.5143A>G

71 papers

NM_007294.4

p.S1715R

c.5143A>C

1 paper

NM_007294.4

p.G1710_V1714del5

c.5128_5141del15

1 paper

NM_007294.4

p.V1714fs

c.5140_5141fs