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.P709L

c.2126C>T

Surrounding Variants

1 paper

NM_000465.4

p.P709S

c.2125C>T

1 paper

NM_000465.4

p.D710N

c.2128G>A

1 paper

NM_000465.4

p.D710fs

c.2128_2129fs

2 papers

NM_000465.4

p.D710V

c.2129A>T

3 papers

NM_000465.4

p.K708R

c.2123A>G

1 paper

NM_000465.4

p.D710A

c.2129A>C

1 paper

NM_000465.4

p.D710fs

c.2128_2129fs

2 papers

NM_000465.4

p.S711R

c.2131A>C

1 paper

NM_000465.4

p.P707L

c.2120C>T

2 papers

NM_000465.4

p.S711R

c.2133T>G

2 papers

NM_000465.4

p.S711R

c.2133T>A

1 paper

NM_000465.4

p.D710_S711delFs

c.2129_2132del4