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.V352A

c.1055T>C

Surrounding Variants

3 papers

NM_000465.4

p.V352V

c.1056G>A

2 papers

NM_000465.4

p.V352M

c.1054G>A

1 paper

NM_000465.4

p.T351T

c.1053G>T

21 papers

NM_000465.4

p.T351T

c.1053G>C

NM_001282543.2

p.T332T

c.996G>C

4 papers

NM_000465.4

p.T351M

c.1052C>T

1 paper

NM_000465.4

p.P353P

c.1059C>G

2 papers

NM_000465.4

p.S354T

c.1060T>A

1 paper

NM_000465.4

p.Q350H

c.1050A>T

1 paper

NM_000465.4

p.Q350H

c.1050A>C

1 paper

NM_000465.4

p.S354*

c.1061C>G

3 papers

NM_000465.4

p.S354*

c.1061C>A

1 paper

NM_000465.4

p.Q350*

c.1048C>T