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.L965R

c.2894T>G

Surrounding Variants

2 papers

NM_007294.4

p.L965L

c.2895C>T

2 papers

NM_007294.4

p.L965F

c.2893C>T

2 papers

NM_007294.4

p.L965insFs

c.2893_2894insA

1 paper

NM_007294.4

p.G964del1

c.2890_2891delTCC

3 papers

NM_007294.4

p.I966fs

c.2896_2897fs

5 papers

NM_007294.4

p.G964G

c.2892A>T

1 paper

NM_007294.4

p.I966F

c.2896A>T

2 papers

NM_007294.4

p.I966V

c.2896A>G

1 paper

NM_007294.4

p.I966L

c.2896A>C

1 paper

NM_007294.4

p.G964G

c.2892A>C

4 papers

NM_007294.4

p.G964fs

c.2890_2891fs

1 paper

NM_007294.4

p.I966_T967insA

c.2896_2900ins3