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.G1492G

c.4476A>C

Surrounding Variants

1 paper

NM_007294.4

p.G1492_V1493insFs

c.4476_4477insG

2 papers

NM_007294.4

p.V1493L

c.4477G>T

1 paper

NM_007294.4

p.G1492V

c.4475G>T

1 paper

NM_007300.4

p.V1514insFs

c.4540_4541insA

3 papers

NM_007294.4

p.V1493L

c.4477G>C

1 paper

NM_007294.4

p.G1492A

c.4475G>C

3 papers

NM_007294.4

p.V1493M

c.4477G>A

2 papers

NM_007294.4

p.P1491_G1492delFs

c.4471_4474del4

1 paper

NM_007294.4

p.K1489_G1492delFs

c.4467_4474del8

3 papers

NM_007294.4

p.T1485_G1492delFs

c.4453_4474del22

1 paper

NM_007294.4

p.P1491_G1492del2

c.4471_4475del6

1 paper

NM_007294.4

p.V1493A

c.4478T>C