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

1 paper

NM_007294.4

p.E765fs

c.2293_2294fs

Surrounding Variants

2 papers

NM_007294.4

p.E765E

c.2295G>A

1 paper

NM_007294.4

p.V764_E765delFs

c.2291_2294del4

4 papers

NM_007294.4

p.S766fs

c.2296_2297fs

1 paper

NM_007294.4

p.E765V

c.2294A>T

8 papers

NM_007294.4

p.E765G

c.2294A>G

5 papers

NM_007294.4

p.S766G

c.2296A>G

2 papers

NM_007294.4

p.S766R

c.2296A>C

6 papers

NM_007294.4

p.E765delFs

c.2295delC

1 paper

NM_007294.4

p.V764_E765del2

c.2290_2294del6

6 papers

NM_007294.4

p.E765*

c.2293G>T

2 papers

NM_007294.4

p.E765K

c.2293G>A

1 paper

NM_007294.4

p.V764delFs

c.2291_2292delTA