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.P654A

c.1960C>G

Surrounding Variants

2 papers

NM_000465.4

p.P654S

c.1960C>T

1 paper

NM_000465.4

p.P654L

c.1961C>T

1 paper

NM_000465.4

p.E655Q

c.1963G>C

1 paper

NM_000465.4

p.I653F

c.1957A>T

1 paper

NM_000465.4

p.I653V

c.1957A>G

14 papers

NM_000465.4

p.E652fs

c.1954_1955fs

2 papers

NM_000465.4

p.E652G

c.1955A>G

1 paper

NM_000465.4

p.E652insFs

c.1954dupG

20 papers

NM_000465.4

p.C645_E652insFs

c.1935_1954dup20

3 papers

NM_000465.4

p.C645_E652delFs

c.1935_1954del20

2 papers

NM_000465.4

p.E652insFs

c.1954_1955ins20

1 paper

NM_000465.4

p.E652insFs

c.1954_1955ins10