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

2 papers

NM_000465.4

p.F763L

c.2287T>C

Surrounding Variants

1 paper

NM_000465.4

p.F763V

c.2287T>G

2 papers

NM_000465.4

p.S761_W762del2

c.2281_2285del6

1 paper

NM_000465.4

p.W762*

c.2286G>A

1 paper

NM_000465.4

p.F763fs

c.2287_2288fs

2 papers

NM_000465.4

p.F763L

c.2289T>G

2 papers

NM_000465.4

p.F763L

c.2289T>A

1 paper

NM_000465.4

p.W762L

c.2285G>T

1 paper

NM_000465.4

p.W762*

c.2285G>A

1 paper

NM_000465.4

p.W762R

c.2284T>C

1 paper

NM_000465.4

p.W762R

c.2284T>A

2 papers

NM_000465.4

p.I764V

c.2290A>G

1 paper

NM_000465.4

p.I764_D765ins10

c.2290_2294ins30