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.A254D

c.761C>A

Surrounding Variants

4 papers

NM_007294.4

p.A254V

c.761C>T

1 paper

NM_007294.4

p.A254G

c.761C>G

1 paper

NM_007294.4

p.A254delFs

c.760_761delGC

2 papers

NM_007294.4

p.A254S

c.760G>T

2 papers

NM_007294.4

p.A254T

c.760G>A

1 paper

NM_007294.4

p.A253delFs

c.759delT

1 paper

NM_007294.4

p.R252_A253delFs

c.756_759del4

15 papers

NM_007294.4

p.E255*

c.763G>T

1 paper

NM_007294.4

p.E255insFs

c.763_764insAT

4 papers

NM_007294.4

p.E255Q

c.763G>C

1 paper

NM_007294.4

p.E255K

c.763G>A

1 paper

NM_007294.4

p.A253A

c.759A>T