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.S578P

c.1732T>C

Surrounding Variants

1 paper

NM_000465.4

p.G576_L577insFs

c.1728_1731dup4

1 paper

NM_000465.4

p.L577delFs

c.1731delC

1 paper

NM_000465.4

p.S578fs

c.1732_1733fs

1 paper

NM_000465.4

p.S575_L577delFs

c.1723_1729del7

2 papers

NM_000465.4

p.G576V

c.1727G>T

1 paper

NM_000465.4

p.G576A

c.1727G>C

1 paper

NM_000465.4

p.S579S

c.1737A>G

1 paper

NM_000465.4

p.G576R

c.1726G>C

8 papers

NM_000465.4

p.E580K

c.1738G>A

1 paper

NM_000465.4

p.G576R

c.1726G>A

1 paper

NM_000465.4

p.S575N

c.1724G>A

2 papers

NM_000465.4

p.E580delins

c.1738_1740delinsACC