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.E286D

c.858G>C

Surrounding Variants

2 papers

NM_007294.4

p.E286D

c.858G>T

4 papers

NM_007294.4

p.E286V

c.857A>T

1 paper

NM_007294.4

p.N287Y

c.859A>T

5 papers

NM_007294.4

p.N287D

c.859A>G

3 papers

NM_007294.4

p.E286G

c.857A>G

2 papers

NM_007294.4

p.E286A

c.857A>C

1 paper

NM_007294.4

p.N287H

c.859A>C

1 paper

NM_007294.4

p.E286delFs

c.856delC

5 papers

NM_007294.4

p.L283_E286del4

c.847_857del12

4 papers

NM_007294.4

p.E286*

c.856G>T

1 paper

NM_007294.4

p.H285_E286insFs

c.855_856ins4

4 papers

NM_007294.4

p.E286Q

c.856G>C