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.N569Y

c.1705A>T

Surrounding Variants

4 papers

NM_007294.4

p.N569D

c.1705A>G

1 paper

NM_007294.4

p.N569H

c.1705A>C

1 paper

NM_007294.4

p.N569insFs

c.1705_1706insG

2 papers

NM_007294.4

p.N569_P570ins4

c.1705_1709ins12

1 paper

NM_007294.4

p.P568del1

c.1702_1704delAGG

2 papers

NM_007294.4

p.P568_N569insFs

c.1704_1705insG

2 papers

NM_007294.4

p.P568P

c.1704T>G

2 papers

NM_007294.4

p.P568P

c.1704T>C

3 papers

NM_007294.4

p.N569I

c.1706A>T

1 paper

NM_007294.4

p.N569S

c.1706A>G

24 papers

NM_007294.4

p.P568L

c.1703C>T

1 paper

NM_007294.4

p.N569N

c.1707C>T