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_001282543.2

p.A503delFs

c.1509delA

Surrounding Variants

1 paper

NM_000465.4

p.V523L

c.1567G>C

1 paper

NM_000465.4

p.V523I

c.1567G>A

4 papers

NM_000465.4

p.V523A

c.1568T>C

1 paper

NM_000465.4

p.V523Splc

c.1568+2T>C

1 paper

NM_000465.4

p.V523delFs

c.1567_1568delAC

1 paper

NM_000465.4

p.R520K

c.1559G>A

1 paper

NM_000465.4

p.V523Splc

c.1568+7A>C

1 paper

NM_000465.4

p.R520G

c.1558A>G

1 paper

NM_000465.4

p.S519S

c.1557C>T

1 paper

NM_000465.4

p.S519Y

c.1556C>A

1 paper

NM_000465.4

p.V523Splc

c.1568+11C>T

1 paper

NM_000465.4

p.A518V

c.1553C>T