Varaico: Literature-Extracted Genetic Variants

Gene:OCSTAMP
Variant:p.V92L

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.V92L
c.274G>C
Surrounding Variants
1 paper
NM_080721.3
p.L91L
c.273G>C
1 paper
NM_080721.3
p.L90F
c.268C>T
1 paper
NM_080721.3
p.G89V
c.266G>T
1 paper
NM_080721.3
p.G97C
c.289G>T
1 paper
NM_080721.3
p.T86N
c.257C>A
1 paper
NM_080721.3
p.T86A
c.256A>G
1 paper
NM_080721.3
p.M83I
c.249G>C
1 paper
NM_080721.3
p.R103H
c.308G>A
1 paper
NM_080721.3
p.P77S
c.229C>T
1 paper
NM_080721.3
p.L74L
c.222G>C
1 paper
NM_080721.3
p.P111H
c.332C>A
1 paper
NM_080721.3
p.R120P
c.359G>C
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