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.P811fs

c.2431_2432fs

Surrounding Variants

12 papers

NM_007294.4

p.K812fs

c.2434_2435fs

1 paper

NM_007294.4

p.P811R

c.2432C>G

2 papers

NM_007294.4

p.K812*

c.2434A>T

1 paper

NM_007294.4

p.K812E

c.2434A>G

5 papers

NM_007294.4

p.N810_P811insFs

c.2430_2431insC

37 papers

NM_007294.4

p.P811delFs

c.2433delG

1 paper

NM_007294.4

p.P811delFs

c.2432_2433delGG

3 papers

NM_007294.4

p.P811S

c.2431C>T

2 papers

NM_007294.4

p.K812R

c.2435A>G

1 paper

NM_007294.4

p.K812T

c.2435A>C

7 papers

NM_007294.4

p.K812fs

c.2434_2435fs

2 papers

NM_007294.4

p.K812insFs

c.2435dupA