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

3 papers

NM_000465.4

p.S51L

c.152C>T

Surrounding Variants

1 paper

NM_000465.4

p.C50C

c.150C>T

1 paper

NM_000465.4

p.R52G

c.154C>G

1 paper

NM_000465.4

p.R52L

c.155G>T

1 paper

NM_000465.4

p.R52H

c.155G>A

1 paper

NM_000465.4

p.C50G

c.148T>G

4 papers

NM_000465.4

p.C53fs

c.157_158fs

1 paper

NM_000465.4

p.R49R

c.147C>G

3 papers

NM_000465.4

p.C53Y

c.158G>A

3 papers

NM_000465.4

p.C53delFs

c.157delA

3 papers

NM_000465.4

p.C53Splc

c.158+1G>T

1 paper

NM_000465.4

p.C53Splc

c.158+3A>C

1 paper

NM_000465.4

p.R52_C53delFs

c.155_158del4