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.V158A

c.473T>C

Surrounding Variants

1 paper

NM_000465.4

p.V157A

c.470T>C

2 papers

NM_000465.4

p.S159N

c.476G>A

1 paper

NM_000465.4

p.R155_V158del4

c.463_473del12

1 paper

NM_000465.4

p.V157L

c.469G>C

1 paper

NM_000465.4

p.V157I

c.469G>A

1 paper

NM_000465.4

p.Y156*

c.468T>G

1 paper

NM_000465.4

p.K160K

c.480A>G

2 papers

NM_000465.4

p.R155R

c.465A>G

1 paper

NM_000465.4

p.R155T

c.464G>C

1 paper

NM_000465.4

p.R155K

c.464G>A

2 papers

NM_000465.4

p.R155*

c.463A>T

1 paper

NM_000465.4

p.R155G

c.463A>G