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.D259Y

c.775G>T

Surrounding Variants

1 paper

NM_000465.4

p.D259N

c.775G>A

4 papers

NM_000465.4

p.D259G

c.776A>G

8 papers

NM_000465.4

p.I258T

c.773T>C

1 paper

NM_000465.4

p.I258delFs

c.772delT

1 paper

NM_000465.4

p.D259E

c.777C>A

1 paper

NM_000465.4

p.E257_D259delFs

c.771_775del5

1 paper

NM_000465.4

p.L260L

c.778T>C

1 paper

NM_000465.4

p.E257delFs

c.769delC

1 paper

NM_000465.4

p.E257*

c.769G>T

1 paper

NM_000465.4

p.L261fs

c.781_782fs

1 paper

NM_000465.4

p.E257fs

c.769_770fs

1 paper

NM_000465.4

p.L261L

c.783A>G