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

6 papers

NM_007294.4

p.V1741D

c.5222T>A

Surrounding Variants

18 papers

NM_007294.4

p.V1741G

c.5222T>G

8 papers

NM_007294.4

p.V1741A

c.5222T>C

2 papers

NM_007297.4

p.V1694F

c.5080G>T

NM_007294.4

p.V1741F

c.5221G>T

2 papers

NM_007294.4

p.V1741L

c.5221G>C

5 papers

NM_007294.4

p.V1741I

c.5221G>A

2 papers

NM_007294.4

p.D1739_V1740delFs

c.5217_5220del4

1 paper

NM_007294.4

p.D1739_V1740delFs

c.5216_5220del5

1 paper

NM_007294.4

p.V1741fs

c.5221_5222fs

1 paper

NM_007294.4

p.V1741V

c.5223C>A

1 paper

NM_007294.4

p.V1741fs

c.5221_5222fs

1 paper

NM_007294.4

p.V1740_V1741delFs

c.5219_5222del4

1 paper

NM_007294.4

p.N1742fs

c.5224_5225fs