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.A280A

c.840C>A

Surrounding Variants

1 paper

NM_007294.4

p.A280A

c.840C>G

1 paper

NM_007294.4

p.A280fs

c.838_839fs

2 papers

NM_007294.4

p.A280V

c.839C>T

23 papers

NM_007294.4

p.A280G

c.839C>G

1 paper

NM_007294.4

p.A280insFs

c.838dupG

5 papers

NM_007294.4

p.S281fs

c.841_842fs

2 papers

NM_007294.4

p.S281C

c.841A>T

5 papers

NM_007294.4

p.S281G

c.841A>G

3 papers

NM_007294.4

p.S281R

c.841A>C

1 paper

NM_007294.4

p.A280Fs

c.838delinsGCCFs

1 paper

NM_007294.4

p.A280delFs

c.840delG

3 papers

NM_007294.4

p.S281I

c.842G>T