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

8 papers

NM_007294.4

p.S1389fs

c.4165_4166fs

Surrounding Variants

1 paper

NM_007294.4

p.S1389G

c.4165A>G

1 paper

NM_007294.4

p.S1387_Q1388delFs

c.4161_4164del4

1 paper

NM_007294.4

p.G1384_Q1388delFs

c.4151_4164del14

1 paper

NM_007294.4

p.S1389insFs

c.4166_4167insAG

3 papers

NM_007294.4

p.Q1388fs

c.4162_4163fs

9 papers

NM_007294.4

p.Q1388insFs

c.4163dupA

23 papers

NM_007294.4

p.S1389N

c.4166G>A

1 paper

NM_007294.4

p.Q1388Q

c.4164G>A

4 papers

NM_007294.4

p.S1389delFs

c.4165delT

3 papers

NM_007294.4

p.Q1388delFs

c.4162_4163delTG

4 papers

NM_007294.4

p.S1389insFs

c.4165_4166dupAG

12 papers

NM_007294.4

p.S1389fs

c.4165_4166fs