Varaico: Literature-Extracted Genetic Variants

Gene:OSTM1

OSTM1

64 papers

RefSeq Summary

This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator o...

Pfam Domains

OSTMP1aa 84–328UCSCOsteopetrosis-associated transmembrane protein 1 precursor

Gene Aliases

HGNC Name

osteoclastogenesis associated transmembrane protein 1

HGNC Alias Symbols

HSPC019; GL

Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
5 papers
NM_014028.4
p.S139delFs
c.415_416delCT
3 papers
NM_014028.4
p.A261_M262Splc
c.783+5G>T
2 papers
NM_014028.4
p.C12*
c.36T>A
2 papers
NM_014028.4
p.S105G
c.313A>G
2 papers
NM_014028.4
p.R271Q
c.812G>A
1 paper
NM_014028.4
p.M1R
c.2T>G
1 paper
NM_014028.4
p.P3_G4insFs
c.9_10insG
1 paper
NM_014028.4
p.C12W
c.36T>G
1 paper
NM_014028.4
p.S13fs
c.37_38fs
1 paper
NM_014028.4
p.L14_P15insFs
c.42_43insC
1 paper
NM_014028.4
p.S26L
c.77C>T
1 paper
NM_014028.4
p.P34_G36ins1
c.102_107dup6
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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."