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.A175P

c.523G>C

Surrounding Variants

1 paper

NM_000465.4

p.A175S

c.523G>T

1 paper

NM_000465.4

p.S174R

c.522T>G

1 paper

NM_000465.4

p.S174R

c.522T>A

3 papers

NM_000465.4

p.S174I

c.521G>T

1 paper

NM_000465.4

p.S174delFs

c.520delT

4 papers

NM_000465.4

p.Q176*

c.526C>T

1 paper

NM_000465.4

p.S174R

c.520A>C

1 paper

NM_000465.4

p.A173insFs

c.518dupC

1 paper

NM_000465.4

p.A173fs

c.517_518fs

1 paper

NM_000465.4

p.A173V

c.518C>T

2 papers

NM_000465.4

p.Q177*

c.529C>T

4 papers

NM_000465.4

p.D172fs

c.514_515fs