Varaico: Literature-Extracted Genetic Variants

BARD1

1,331 papers

RefSeq Summary

This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of ...

Pfam Domains

zf-RING_6aa 41–83UCSCzf-RING of BARD1-type protein

zf-RING_6aa 41–105UCSCzf-RING of BARD1-type protein

BRCTaa 116–189UCSCBRCA1 C Terminus (BRCT) domain

Ankaa 427–459UCSCAnkyrin repeat

Ankaa 460–492UCSCAnkyrin repeat

Ankaa 493–525UCSCAnkyrin repeat

Gene Aliases

HGNC Name

BRCA1 associated RING domain 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000465.4

p.A23delFs

c.67delC

Surrounding Variants

1 paper

NM_000465.4

p.A23E

c.68C>A

1 paper

NM_000465.4

p.A23_P24insFs

c.69_70insC

1 paper

NM_000465.4

p.A23fs

c.67_68fs

1 paper

NM_000465.4

p.A23fs

c.67_68fs

78 papers

NM_000465.4

p.P24S

c.70C>T

3 papers

NM_000465.4

p.P24insFs

c.70_71insGT

1 paper

NM_000465.4

p.S22S

c.66C>A

1 paper

NM_000465.4

p.A23_P24Fs

c.69_70delinsTCCGGGAACGAGCCTCGTTCCGCGTFs

1 paper

NM_000465.4

p.P24fs

c.70_71fs

1 paper

NM_000465.4

p.P24R

c.71C>G

2 papers

NM_000465.4

p.P24insFs

c.71_72ins23

1 paper

NM_000465.4

p.P24H

c.71C>A