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.A161delFs

c.482_483delAG

Surrounding Variants

3 papers

NM_000465.4

p.S162A

c.484T>G

2 papers

NM_000465.4

p.V163M

c.487G>A

1 paper

NM_000465.4

p.K160K

c.480A>G

1 paper

NM_000465.4

p.V163V

c.489G>T

2 papers

NM_000465.4

p.Q164*

c.490C>T

1 paper

NM_000465.4

p.R155_V158del4

c.463_473del12

1 paper

NM_000465.4

p.Q164P

c.491A>C

2 papers

NM_000465.4

p.S159N

c.476G>A

1 paper

NM_000465.4

p.Q164H

c.492A>T

1 paper

NM_000465.4

p.Q164H

c.492A>C

3 papers

NM_000465.4

p.T165S

c.493A>T

3 papers

NM_000465.4

p.T165A

c.493A>G