Varaico: Literature-Extracted Genetic Variants

Gene:OCSTAMP
Variant:p.F254L

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.F254L
c.760T>C
Surrounding Variants
1 paper
NM_080721.3
p.F254L
c.762T>G
1 paper
NM_080721.3
p.F254L
c.762T>A
1 paper
NM_080721.3
p.Y258N
c.772T>A
1 paper
NM_080721.3
p.Q261K
c.781C>A
1 paper
NM_080721.3
p.R266W
c.796C>T
1 paper
NM_080721.3
p.L237V
c.709C>G
1 paper
NM_080721.3
p.G236G
c.708C>T
1 paper
NM_080721.3
p.F233Y
c.698T>A
1 paper
NM_080721.3
p.V228M
c.682G>A
1 paper
NM_080721.3
p.W282L
c.845G>T
1 paper
NM_080721.3
p.L284I
c.850C>A
2 papers
NM_080721.3
p.A287S
c.859G>T
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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."