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.T333S

c.998C>G

Surrounding Variants

3 papers

NM_007294.4

p.T333I

c.998C>T

4 papers

NM_007294.4

p.T333N

c.998C>A

1 paper

NM_007294.4

p.T333T

c.999T>G

9 papers

NM_007294.4

p.T333T

c.999T>C

4 papers

NM_007294.4

p.T333T

c.999T>A

1 paper

NM_007294.4

p.T333S

c.997A>T

12 papers

NM_007294.4

p.T333A

c.997A>G

2 papers

NM_007294.4

p.R332insFs

c.995_996insG

3 papers

NM_007294.4

p.R332delFs

c.995delC

1 paper

NM_007294.4

p.R332R

c.996G>T

3 papers

NM_007294.4

p.P334S

c.1000C>T

1 paper

NM_007294.4

p.P334A

c.1000C>G