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.K204N

c.612A>T

Surrounding Variants

1 paper

NM_000465.4

p.K204N

c.612A>C

1 paper

NM_000465.4

p.K205R

c.614A>G

1 paper

NM_000465.4

p.K205T

c.614A>C

1 paper

NM_000465.4

p.K205fs

c.613_614fs

3 papers

NM_000465.4

p.K205insFs

c.614dupA

1 paper

NM_000465.4

p.K205delFs

c.614delT

1 paper

NM_000465.4

p.G203_K204delFs

c.609_610delTT

7 papers

NM_000465.4

p.G203G

c.609A>C

1 paper

NM_000465.4

p.G203E

c.608G>A

1 paper

NM_000465.4

p.Q206E

c.616C>G

3 papers

NM_000465.4

p.Q206K

c.616C>A

2 papers

NM_000465.4

p.Q206fs

c.616_617fs