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.V199fs

c.595_596fs

Surrounding Variants

1 paper

NM_007294.4

p.V199L

c.595G>T

1 paper

NM_007294.4

p.V199L

c.595G>C

3 papers

NM_007294.4

p.V199M

c.595G>A

1 paper

NM_007294.4

p.S198_V199insFs

c.594_595ins5

2 papers

NM_007294.4

p.V199G

c.596T>G

2 papers

NM_007294.4

p.S198R

c.594T>G

2 papers

NM_007294.4

p.S198R

c.594T>A

1 paper

NM_007294.4

p.V199E

c.596T>A

3 papers

NM_007294.4

p.S198Splc

c.594-1G>T

2 papers

NM_007294.4

p.S198Splc

c.594-1G>C

3 papers

NM_007294.4

p.S198N

c.593G>A

1 paper

NM_007294.4

p.G200*

c.598G>T