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.Q582*

c.1744C>T

Surrounding Variants

3 papers

NM_000465.4

p.E580_Q581del2

c.1738_1742del6

4 papers

NM_000465.4

p.Q581K

c.1741C>A

2 papers

NM_000465.4

p.E580delins

c.1738_1740delinsACC

8 papers

NM_000465.4

p.E580K

c.1738G>A

1 paper

NM_000465.4

p.M584T

c.1751T>C

1 paper

NM_000465.4

p.S579S

c.1737A>G

1 paper

NM_000465.4

p.L585F

c.1753C>T

1 paper

NM_000465.4

p.L585R

c.1754T>G

2 papers

NM_000465.4

p.L585P

c.1754T>C

1 paper

NM_000465.4

p.G576_L577insFs

c.1728_1731dup4

1 paper

NM_000465.4

p.S578P

c.1732T>C

1 paper

NM_000465.4

p.L577delFs

c.1731delC