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.T710delFs

c.2129delG

Surrounding Variants

2 papers

NM_007294.4

p.T710Fs

c.2130delinsAAFs

5 papers

NM_007294.4

p.K711fs

c.2131_2132fs

4 papers

NM_007294.4

p.T710S

c.2129C>G

4 papers

NM_007294.4

p.T710insFs

c.2129_2130insTG

1 paper

NM_007294.4

p.K711*

c.2131A>T

1 paper

NM_007294.4

p.K711E

c.2131A>G

1 paper

NM_007294.4

p.K711Q

c.2131A>C

4 papers

NM_007294.4

p.K711_C712ins4

c.2131_2135ins12

1 paper

NM_007294.4

p.T710fs

c.2128_2129fs

3 papers

NM_007294.4

p.T710S

c.2128A>T

2 papers

NM_007294.4

p.T710A

c.2128A>G

1 paper

NM_007294.4

p.K711T

c.2132A>C