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.E268fs

c.802_803fs

Surrounding Variants

1 paper

NM_000465.4

p.E268delFs

c.803_804delTT

1 paper

NM_000465.4

p.E268*

c.802G>T

3 papers

NM_000465.4

p.E268K

c.802G>A

7 papers

NM_000465.4

p.E270*

c.808G>T

1 paper

NM_000465.4

p.E270K

c.808G>A

1 paper

NM_000465.4

p.L266F

c.798G>T

1 paper

NM_000465.4

p.L266F

c.798G>C

1 paper

NM_000465.4

p.L266delFs

c.797delA

1 paper

NM_000465.4

p.L260_E270delFs

c.780_808del29

1 paper

NM_000465.4

p.S265S

c.795C>T

1 paper

NM_000465.4

p.G264_S265delFs

c.791_794del4

1 paper

NM_000465.4

p.S265Y

c.794C>A