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

5 papers

NM_000465.4

p.S660R

c.1980C>A

Surrounding Variants

5 papers

NM_000465.4

p.S660R

c.1980C>G

5 papers

NM_000465.4

p.S660R

c.1978A>C

22 papers

NM_000465.4

p.R659R

c.1977A>G

1 paper

NM_000465.4

p.L662I

c.1984C>A

1 paper

NM_000465.4

p.L662R

c.1985T>G

4 papers

NM_000465.4

p.R658H

c.1973G>A

1 paper

NM_000465.4

p.N663H

c.1987A>C

74 papers

NM_000465.4

p.R658C

c.1972C>T

1 paper

NM_000465.4

p.R658G

c.1972C>G

1 paper

NM_000465.4

p.R658S

c.1972C>A

3 papers

NM_000465.4

p.N663S

c.1988A>G

1 paper

NM_000465.4

p.N663N

c.1989C>T