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.Q910Q

c.2730A>G

Surrounding Variants

1 paper

NM_007294.4

p.G911insFs

c.2731_2732insT

1 paper

NM_007294.4

p.G911insFs

c.2731_2732insC

3 papers

NM_007294.4

p.G911R

c.2731G>C

2 papers

NM_007294.4

p.G911R

c.2731G>A

21 papers

NM_007294.4

p.N909_Q910delFs

c.2727_2730del4

3 papers

NM_007294.4

p.E908_Q910delFs

c.2724_2728del5

2 papers

NM_007294.4

p.G911fs

c.2731_2732fs

6 papers

NM_007294.4

p.Q910delFs

c.2728delG

5 papers

NM_007294.4

p.G911insFs

c.2732_2733insT

2 papers

NM_007294.4

p.G911insFs

c.2732_2733insA

5 papers

NM_007294.4

p.G911E

c.2732G>A

10 papers

NM_007294.4

p.Q910*

c.2728C>T