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.P252S

c.754C>T

Surrounding Variants

1 paper

NM_000465.4

p.Q253*

c.757C>T

1 paper

NM_000465.4

p.Q253E

c.757C>G

1 paper

NM_000465.4

p.Q253P

c.758A>C

1 paper

NM_000465.4

p.S250Y

c.749C>A

2 papers

NM_000465.4

p.S250A

c.748T>G

1 paper

NM_000465.4

p.I254L

c.760A>T

1 paper

NM_000465.4

p.I254L

c.760A>C

2 papers

NM_000465.4

p.I249I

c.747C>T

1 paper

NM_000465.4

p.I249fs

c.745_746fs

1 paper

NM_000465.4

p.I249delins

c.746_747delinsTA

1 paper

NM_000465.4

p.I249insFs

c.745dupA

1 paper

NM_000465.4

p.I249T

c.746T>C