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.M383R

c.1148T>G

Surrounding Variants

5 papers

NM_000465.4

p.M383K

c.1148T>A

1 paper

NM_000465.4

p.M383L

c.1147A>T

1 paper

NM_000465.4

p.M383L

c.1147A>C

1 paper

NM_000465.4

p.S384A

c.1150T>G

1 paper

NM_000465.4

p.S384F

c.1151C>T

2 papers

NM_000465.4

p.N382S

c.1145A>G

1 paper

NM_000465.4

p.N382T

c.1145A>C

4 papers

NM_000465.4

p.S384S

c.1152C>T

2 papers

NM_000465.4

p.D385N

c.1153G>A

1 paper

NM_000465.4

p.D385G

c.1154A>G

2 papers

NM_000465.4

p.S381C

c.1141A>T

5 papers

NM_000465.4

p.E386*

c.1156G>T