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.N298Y

c.892A>T

Surrounding Variants

3 papers

NM_007294.4

p.N298fs

c.892_893fs

1 paper

NM_007294.4

p.N298D

c.892A>G

1 paper

NM_007294.4

p.N298H

c.892A>C

17 papers

NM_007294.4

p.M297I

c.891G>T

16 papers

NM_007294.4

p.M297I

c.891G>C

18 papers

NM_007294.4

p.M297I

c.891G>A

1 paper

NM_007294.4

p.M297delFs

c.890delA

2 papers

NM_007294.4

p.N298I

c.893A>T

5 papers

NM_007294.4

p.N298S

c.893A>G

1 paper

NM_007294.4

p.N298T

c.893A>C

1 paper

NM_007294.4

p.M297_N298ins0

c.890_892dupTGA

1 paper

NM_007294.4

p.N298fs

c.892_893fs