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

2 papers

NM_007294.4

p.N376_S377delFs

c.1126_1129del4

Surrounding Variants

6 papers

NM_007294.4

p.S377insFs

c.1129_1130insA

5 papers

NM_007294.4

p.S377N

c.1130G>A

6 papers

NM_007294.4

p.S377delFs

c.1129delT

3 papers

NM_007294.4

p.S377R

c.1131C>G

1 paper

NM_007294.4

p.S377fs

c.1129_1130fs

5 papers

NM_007294.4

p.S377R

c.1131C>A

1 paper

NM_007294.4

p.S377delFs

c.1129_1130delCT

1 paper

NM_007294.4

p.S377fs

c.1129_1130fs

2 papers

NM_007294.4

p.S377G

c.1129A>G

4 papers

NM_007294.4

p.S377R

c.1129A>C

4 papers

NM_007294.4

p.N376delFs

c.1128delA

1 paper

NM_007294.4

p.N376_S377insFs

c.1128_1129insG