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.L416V

c.1246C>G

Surrounding Variants

1 paper

NM_007294.4

p.L416L

c.1246C>T

1 paper

NM_007294.4

p.L416I

c.1246C>A

4 papers

NM_007294.4

p.L416R

c.1247T>G

1 paper

NM_007294.4

p.L416P

c.1247T>C

1 paper

NM_007294.4

p.V415V

c.1245T>C

2 papers

NM_007294.4

p.D414_L416delFs

c.1240_1246del7

7 papers

NM_007294.4

p.V415A

c.1244T>C

3 papers

NM_007294.4

p.L416L

c.1248A>G

1 paper

NM_007294.4

p.L416delFs

c.1247delA

1 paper

NM_007294.4

p.V415fs

c.1243_1244fs

1 paper

NM_007294.4

p.V415F

c.1243G>T

1 paper

NM_007294.4

p.V415insFs

c.1243_1244ins4