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.S36fs

c.106_107fs

Surrounding Variants

5 papers

NM_007294.4

p.S36A

c.106T>G

2 papers

NM_007294.4

p.S36P

c.106T>C

7 papers

NM_007294.4

p.S36T

c.106T>A

1 paper

NM_007294.4

p.P34_V35delFs

c.101_105del5

5 papers

NM_007294.4

p.S36F

c.107C>T

2 papers

NM_007294.4

p.V35V

c.105C>T

1 paper

NM_007294.4

p.S36C

c.107C>G

1 paper

NM_007294.4

p.V35V

c.105C>G

1 paper

NM_007294.4

p.S36insFs

c.106dupT

1 paper

NM_007294.4

p.V35insFs

c.104dupT

1 paper

NM_007294.4

p.V35_S36insFs

c.105_106insG

1 paper

NM_007294.4

p.V35_S36insFs

c.105_106insGC