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.T710A

c.2128A>G

Surrounding Variants

1 paper

NM_007294.4

p.T710fs

c.2128_2129fs

3 papers

NM_007294.4

p.T710S

c.2128A>T

3 papers

NM_007294.4

p.F709delFs

c.2127delA

1 paper

NM_007294.4

p.S708_F709delFs

c.2124_2127del4

5 papers

NM_007294.4

p.F709fs

c.2125_2126fs

4 papers

NM_007294.4

p.T710S

c.2129C>G

4 papers

NM_007294.4

p.T710insFs

c.2129_2130insTG

4 papers

NM_007294.4

p.F709insFs

c.2126_2127insA

1 paper

NM_007294.4

p.F709C

c.2126T>G

2 papers

NM_007294.4

p.T710Fs

c.2130delinsAAFs

2 papers

NM_007294.4

p.T710delFs

c.2129delG

1 paper

NM_007294.4

p.F709ins1

c.2125_2126insAGT