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.R731H

c.2192G>A

Surrounding Variants

9 papers

NM_000465.4

p.R731C

c.2191C>T

11 papers

NM_000465.4

p.R731G

c.2191C>G

1 paper

NM_000465.4

p.F732C

c.2195T>G

1 paper

NM_000465.4

p.Q730L

c.2189A>T

2 papers

NM_000465.4

p.Q730R

c.2189A>G

6 papers

NM_000465.4

p.Q730P

c.2189A>C

1 paper

NM_000465.4

p.Q730*

c.2188C>T

1 paper

NM_000465.4

p.D729delFs

c.2186_2187delAT

2 papers

NM_000465.4

p.C733R

c.2197T>C

1 paper

NM_000465.4

p.D729A

c.2186A>C

2 papers

NM_000465.4

p.D729Y

c.2185G>T

2 papers

NM_000465.4

p.D729N

c.2185G>A