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.E27K

c.79G>A

Surrounding Variants

2 papers

NM_000465.4

p.E27*

c.79G>T

3 papers

NM_000465.4

p.E27Q

c.79G>C

4 papers

NM_000465.4

p.M26I

c.78G>A

2 papers

NM_000465.4

p.M26R

c.77T>G

1 paper

NM_000465.4

p.M26delFs

c.76delT

1 paper

NM_000465.4

p.M26fs

c.76_77fs

1 paper

NM_000465.4

p.E27delFs

c.80delT

2 papers

NM_000465.4

p.M26V

c.76A>G

1 paper

NM_000465.4

p.P28L

c.83C>T

5 papers

NM_000465.4

p.P28R

c.83C>G

1 paper

NM_000465.4

p.A25fs

c.73_74fs

4 papers

NM_000465.4

p.A25P

c.73G>C