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.K135K

c.405A>G

Surrounding Variants

3 papers

NM_007294.4

p.K135N

c.405A>T

2 papers

NM_007294.4

p.K135N

c.405A>C

1 paper

NM_007294.4

p.K135fs

c.403_404fs

1 paper

NM_007294.4

p.K135I

c.404A>T

3 papers

NM_007294.4

p.K135R

c.404A>G

2 papers

NM_007294.4

p.R136G

c.406A>G

1 paper

NM_007294.4

p.K135T

c.404A>C

2 papers

NM_007294.4

p.A134_K135ins0

c.401_403dupCCA

7 papers

NM_007294.4

p.R136fs

c.406_407fs

3 papers

NM_007294.4

p.R131_A134del4

c.391_401del12

1 paper

NM_007294.4

p.R131_K135delFs

c.392_405del14

3 papers

NM_007294.4

p.R136I

c.407G>T