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

5 papers

NM_007294.4

p.V1120fs

c.3358_3359fs

Surrounding Variants

14 papers

NM_007294.4

p.V1120delFs

c.3358_3359delAC

1 paper

NM_007294.4

p.V1120insFs

c.3359_3360insG

9 papers

NM_007294.4

p.V1120D

c.3359T>A

5 papers

NM_007294.4

p.N1121fs

c.3361_3362fs

1 paper

NM_007294.4

p.N1121D

c.3361A>G

3 papers

NM_007294.4

p.N1121H

c.3361A>C

7 papers

NM_007294.4

p.V1120delFs

c.3359_3360delAA

9 papers

NM_007294.4

p.V1120fs

c.3358_3359fs

7 papers

NM_007294.4

p.V1120I

c.3358G>A

2 papers

NM_007294.4

p.T1119delFs

c.3357delA

8 papers

NM_007294.4

p.N1121S

c.3362A>G

3 papers

NM_007294.4

p.N1121fs

c.3361_3362fs