Varaico: Literature-Extracted Genetic Variants

Gene:OCSTAMP
Variant:p.A59del1

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.A59del1
c.175_176delAGC
Surrounding Variants
1 paper
NM_080721.3
p.A59V
c.176C>T
1 paper
NM_080721.3
p.L53I
c.157C>A
1 paper
NM_080721.3
p.L74L
c.222G>C
1 paper
NM_080721.3
p.P77S
c.229C>T
1 paper
NM_080721.3
p.L48M
c.142C>A
1 paper
NM_080721.3
p.G46A
c.137G>C
1 paper
NM_080721.3
p.G46R
c.136G>C
1 paper
NM_080721.3
p.M83I
c.249G>C
1 paper
NM_080721.3
p.T86A
c.256A>G
1 paper
NM_080721.3
p.T86N
c.257C>A
1 paper
NM_080721.3
p.P40H
c.119C>A
1 paper
NM_080721.3
p.Q39*
c.115C>T
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