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

2 papers

NM_000465.4

p.Q647*

c.1939C>T

Surrounding Variants

1 paper

NM_000465.4

p.K643_E646del4

c.1927_1937del12

1 paper

NM_000465.4

p.Q647R

c.1940A>G

1 paper

NM_000465.4

p.Q647H

c.1941G>T

1 paper

NM_000465.4

p.Q647H

c.1941G>C

1 paper

NM_000465.4

p.E646G

c.1937A>G

1 paper

NM_000465.4

p.E648*

c.1942G>T

1 paper

NM_000465.4

p.E646*

c.1936G>T

1 paper

NM_000465.4

p.E648K

c.1942G>A

4 papers

NM_000465.4

p.C645fs

c.1933_1934fs

11 papers

NM_000465.4

p.C645*

c.1935T>A

9 papers

NM_000465.4

p.V644_C645delFs

c.1932_1933delAT

21 papers

NM_000465.4

p.C645R

c.1933T>C