Varaico: Literature-Extracted Genetic Variants

Gene:OCSTAMP
Variant:p.Q457K

OCSTAMP

34 papers

RefSeq Summary

The protein encoded by this gene is orthologous to the mouse osteoclast stimulatory transmembrane protein (OCSTAMP), which is a membrane-anchored cell surface receptor that promotes nucleation of oste...

Pfam Domains

DC_STAMPaa 254–446UCSCDC-STAMP-like protein

Gene Aliases

HGNC Name

osteoclast stimulatory transmembrane protein

HGNC Previous Symbol

C20orf123

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_080721.3
p.Q457K
c.1369C>A
Surrounding Variants
1 paper
NM_080721.3
p.P462T
c.1384C>A
1 paper
NM_080721.3
p.D465N
c.1393G>A
1 paper
NM_080721.3
p.R443C
c.1327C>T
1 paper
NM_080721.3
p.P478H
c.1433C>A
1 paper
NM_080721.3
p.F433L
c.1299C>G
1 paper
NM_080721.3
p.F433L
c.1299C>A
1 paper
NM_080721.3
p.F433L
c.1297T>C
1 paper
NM_080721.3
p.W481L
c.1442G>T
1 paper
NM_080721.3
p.S432F
c.1295C>T
1 paper
NM_080721.3
p.L489I
c.1465T>A
1 paper
NM_080721.3
p.L418V
c.1252C>G
1 paper
NM_080721.3
p.G413C
c.1237G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."