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.S558P

c.1672T>C

Surrounding Variants

1 paper

NM_000465.4

p.S558T

c.1672T>A

81 papers

NM_000465.4

p.C557S

c.1670G>C

1 paper

NM_000465.4

p.S558S

c.1674A>T

81 papers

NM_000465.4

p.C557S

c.1669T>A

1 paper

NM_000465.4

p.V559A

c.1676T>C

1 paper

NM_000465.4

p.H556R

c.1667A>G

6 papers

NM_000465.4

p.V559_M560Splc

c.1677+1G>T

3 papers

NM_000465.4

p.V559_M560Splc

c.1677+1G>C

4 papers

NM_000465.4

p.V559_M560Splc

c.1677+1G>A

1 paper

NM_000465.4

p.H556D

c.1666C>G

2 papers

NM_000465.4

p.A554_S555delFs

c.1662_1665del4

1 paper

NM_000465.4

p.S555fs

c.1663_1664fs