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

3 papers

NM_000465.4

p.A198fs

c.592_593fs

Surrounding Variants

1 paper

NM_000465.4

p.A198P

c.592G>C

3 papers

NM_000465.4

p.K197fs

c.589_590fs

1 paper

NM_000465.4

p.K197K

c.591G>A

1 paper

NM_000465.4

p.K197delFs

c.590delT

4 papers

NM_000465.4

p.A198V

c.593C>T

2 papers

NM_000465.4

p.A198insFs

c.592_593insGA

3 papers

NM_000465.4

p.A198delFs

c.592delC

1 paper

NM_000465.4

p.A198fs

c.592_593fs

1 paper

NM_000465.4

p.A198delFs

c.593delG

1 paper

NM_000465.4

p.K197E

c.589A>G

3 papers

NM_000465.4

p.K196R

c.587A>G

1 paper

NM_000465.4

p.K196E

c.586A>G