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.V507delFs

c.1520_1521delCA

Surrounding Variants

1 paper

NM_000465.4

p.D508G

c.1523A>G

1 paper

NM_000465.4

p.V507A

c.1520T>C

4 papers

NM_000465.4

p.V507L

c.1519G>T

2 papers

NM_000465.4

p.V507L

c.1519G>C

91 papers

NM_000465.4

p.V507M

c.1519G>A

NM_001282543.2

p.V488M

c.1462G>A

1 paper

NM_000465.4

p.H506_V507Fs

c.1518_1519delinsCACFs

20 papers

NM_000465.4

p.H506_V507delins

c.1518_1519delinsCA

1 paper

NM_000465.4

p.V507fs

c.1519_1520fs

1 paper

NM_000465.4

p.I509V

c.1525A>G

21 papers

NM_000465.4

p.H506H

c.1518T>C

4 papers

NM_000465.4

p.I509T

c.1526T>C

1 paper

NM_000465.4

p.H506R

c.1517A>G