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.L667_L668Splc

c.2002-1G>A

Surrounding Variants

1 paper

NM_000465.4

p.L667_L668Splc

c.2002-1G>C

2 papers

NM_000465.4

p.L668insFs

c.2002_2003insGA

1 paper

NM_000465.4

p.L667_L668Splc

c.2002-2A>T

5 papers

NM_000465.4

p.L667_L668Splc

c.2002-2A>G

5 papers

NM_000465.4

p.L667_L668Splc

c.2002-2A>C

2 papers

NM_000465.4

p.L668*

c.2003T>A

2 papers

NM_000465.4

p.L668F

c.2004G>T

2 papers

NM_000465.4

p.L668F

c.2004G>C

1 paper

NM_000465.4

p.P669L

c.2006C>T

2 papers

NM_000465.4

p.P669Q

c.2006C>A

1 paper

NM_000465.4

p.K670E

c.2008A>G

2 papers

NM_000465.4

p.K670N

c.2010G>T