Varaico: Literature-Extracted Genetic Variants

Gene:OCSTAMP
Variant:p.D191E

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
2 papers
NM_080721.3
p.D191E
c.573C>A
Surrounding Variants
2 papers
NM_080721.3
p.D191E
c.573C>G
1 paper
NM_080721.3
p.Q190K
c.568C>A
1 paper
NM_080721.3
p.H199L
c.596A>T
1 paper
NM_080721.3
p.R183Q
c.548G>A
1 paper
NM_080721.3
p.R183W
c.547C>T
1 paper
NM_080721.3
p.L201I
c.601C>A
1 paper
NM_080721.3
p.Q179H
c.537G>T
2 papers
NM_080721.3
p.Q179H
c.537G>C
1 paper
NM_080721.3
p.R172K
c.515G>A
1 paper
NM_080721.3
p.A170P
c.508G>C
1 paper
NM_080721.3
p.V228M
c.682G>A
1 paper
NM_080721.3
p.F233Y
c.698T>A
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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."