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

4 papers

NM_000465.4

p.A33P

c.97G>C

Surrounding Variants

3 papers

NM_000465.4

p.G32V

c.95G>T

1 paper

NM_000465.4

p.W34R

c.100T>C

1 paper

NM_000465.4

p.W34R

c.100T>A

1 paper

NM_000465.4

p.G32R

c.94G>C

1 paper

NM_000465.4

p.W34*

c.101G>A

1 paper

NM_000465.4

p.R31R

c.93C>G

1 paper

NM_000465.4

p.W34*

c.102G>A

2 papers

NM_000465.4

p.A35T

c.103G>A

1 paper

NM_000465.4

p.W34del1

c.100_102delCCA

2 papers

NM_000465.4

p.R31C

c.91C>T

2 papers

NM_000465.4

p.R31S

c.91C>A

1 paper

NM_000465.4

p.G30G

c.90T>A