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.S235A

c.703T>G

Surrounding Variants

1 paper

NM_000465.4

p.S235Y

c.704C>A

1 paper

NM_000465.4

p.E234V

c.701A>T

1 paper

NM_000465.4

p.E234G

c.701A>G

3 papers

NM_000465.4

p.E234*

c.700G>T

2 papers

NM_000465.4

p.E234Q

c.700G>C

1 paper

NM_000465.4

p.K236E

c.706A>G

1 paper

NM_000465.4

p.K236R

c.707A>G

1 paper

NM_000465.4

p.E233A

c.698A>C

1 paper

NM_000465.4

p.E233delins

c.697_698delinsTA

1 paper

NM_000465.4

p.E233_E234insT

c.697_701ins3

3 papers

NM_000465.4

p.Q237*

c.709C>T

6 papers

NM_000465.4

p.Q237E

c.709C>G