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.N743D

c.2227A>G

Surrounding Variants

1 paper

NM_007294.4

p.N743Y

c.2227A>T

1 paper

NM_007294.4

p.N742delFs

c.2225delT

3 papers

NM_007294.4

p.N743S

c.2228A>G

3 papers

NM_007294.4

p.N743insFs

c.2228_2229insG

1 paper

NM_007294.4

p.N743insFs

c.2228_2229insC

24 papers

NM_007294.4

p.N743N

c.2229T>C

6 papers

NM_007294.4

p.N742S

c.2225A>G

2 papers

NM_007294.4

p.A744fs

c.2230_2231fs

3 papers

NM_007294.4

p.A744S

c.2230G>T

1 paper

NM_007294.4

p.N743insFs

c.2229dupT

1 paper

NM_007294.4

p.A744P

c.2230G>C

1 paper

NM_007294.4

p.A744T

c.2230G>A