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.D189E

c.567T>A

Surrounding Variants

1 paper

NM_007294.4

p.D189insFs

c.566_567insA

1 paper

NM_007294.4

p.D189E

c.567T>G

2 papers

NM_007294.4

p.D189D

c.567T>C

1 paper

NM_007294.4

p.D189V

c.566A>T

2 papers

NM_007294.4

p.T190A

c.568A>G

2 papers

NM_007294.4

p.D189G

c.566A>G

2 papers

NM_007294.4

p.D189A

c.566A>C

1 paper

NM_007294.4

p.T190P

c.568A>C

1 paper

NM_007294.4

p.D189insFs

c.566_567insG

1 paper

NM_007294.4

p.T190_V191insA

c.568_572ins3

1 paper

NM_007294.4

p.G183_D189del0

c.548_565del18

1 paper

NM_007294.4

p.D189fs

c.565_566fs