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.K947fs

c.2839_2840fs

Surrounding Variants

1 paper

NM_007294.4

p.K947*

c.2839A>T

1 paper

NM_007294.4

p.K947E

c.2839A>G

1 paper

NM_007294.4

p.I946fs

c.2836_2837fs

5 papers

NM_007294.4

p.S945_I946delFs

c.2835_2836delTA

2 papers

NM_007294.4

p.K947R

c.2840A>G

2 papers

NM_007294.4

p.I946Fs

c.2836_2837delinsCFs

2 papers

NM_007294.4

p.S945_I946del1

c.2834_2836delTAC

2 papers

NM_007294.4

p.K947N

c.2841A>T

1 paper

NM_007294.4

p.K947N

c.2841A>C

2 papers

NM_007294.4

p.K947_G948insFs

c.2841_2842insA

1 paper

NM_007294.4

p.G948R

c.2842G>C

2 papers

NM_007294.4

p.G948R

c.2842G>A