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.M26_A40del15

c.76_119del45

Surrounding Variants

1 paper

NM_000465.4

p.A40ins2

c.119_120ins6

8 papers

NM_000465.4

p.A40V

c.119C>T

1 paper

NM_000465.4

p.A40E

c.119C>A

1 paper

NM_000465.4

p.A40T

c.118G>A

1 paper

NM_000465.4

p.A39A

c.117C>T

2 papers

NM_000465.4

p.R38delFs

c.112_113delCG

1 paper

NM_000465.4

p.D42V

c.125A>T

1 paper

NM_000465.4

p.A39V

c.116C>T

3 papers

NM_000465.4

p.A39G

c.116C>G

3 papers

NM_000465.4

p.A39T

c.115G>A

2 papers

NM_000465.4

p.R43C

c.127C>T

2 papers

NM_000465.4

p.R43S

c.127C>A