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

54 papers

NM_007294.4

p.V191I

c.571G>A

Surrounding Variants

2 papers

NM_007294.4

p.V191F

c.571G>T

2 papers

NM_007294.4

p.V191L

c.571G>C

2 papers

NM_007294.4

p.T190delFs

c.569delG

1 paper

NM_007294.4

p.V191Fs

c.572delinsCTFs

2 papers

NM_007294.4

p.V191G

c.572T>G

1 paper

NM_007294.4

p.V191A

c.572T>C

10 papers

NM_007294.4

p.V191D

c.572T>A

5 papers

NM_007294.4

p.T190T

c.570C>T

1 paper

NM_007294.4

p.T190_V191insFs

c.570_571ins4

1 paper

NM_007294.4

p.T190fs

c.568_569fs

1 paper

NM_007294.4

p.D189_T190delFs

c.566_569del4

1 paper

NM_007294.4

p.V191V

c.573T>A