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.V788A

c.2363T>C

Surrounding Variants

1 paper

NM_007294.4

p.V788G

c.2363T>G

6 papers

NM_007294.4

p.V788delFs

c.2362delC

3 papers

NM_007294.4

p.V788fs

c.2362_2363fs

1 paper

NM_007294.4

p.V788fs

c.2362_2363fs

10 papers

NM_007294.4

p.V788I

c.2362G>A

1 paper

NM_007294.4

p.S789fs

c.2365_2366fs

2 papers

NM_007294.4

p.S789G

c.2365A>G

4 papers

NM_007294.4

p.E787fs

c.2359_2360fs

1 paper

NM_007294.4

p.S789delFs

c.2365delT

3 papers

NM_007294.4

p.E787G

c.2360A>G

14 papers

NM_007294.4

p.E787insFs

c.2359dupG

11 papers

NM_007294.4

p.E787delFs

c.2359delC