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

56 papers

NM_007294.4

p.S1389delFs

c.4165_4166delCT

Surrounding Variants

4 papers

NM_007294.4

p.S1389insFs

c.4165_4166dupAG

12 papers

NM_007294.4

p.S1389fs

c.4165_4166fs

9 papers

NM_007294.4

p.S1389S

c.4167T>C

2 papers

NM_007294.4

p.Q1388_S1389delFs

c.4163_4166del4

1 paper

NM_007294.4

p.S1389insFs

c.4166_4167insAG

3 papers

NM_007294.4

p.D1390_I1391insG

c.4168_4172ins3

23 papers

NM_007294.4

p.S1389N

c.4166G>A

3 papers

NM_007294.4

p.D1390N

c.4168G>A

2 papers

NM_007294.4

p.S1389delFs

c.4167delA

4 papers

NM_007294.4

p.S1389delFs

c.4165delT

1 paper

NM_007294.4

p.D1390fs

c.4168_4169fs

8 papers

NM_007294.4

p.S1389fs

c.4165_4166fs