Varaico: Literature-Extracted Genetic Variants

Gene:OSTM1
Variant:p.P74H

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
Selected Variant
1 paper
NM_014028.4
p.P74H
c.221C>A
Surrounding Variants
1 paper
NM_014028.4
p.P78S
c.232C>T
1 paper
NM_014028.4
p.L80M
c.238C>A
1 paper
NM_014028.4
p.D81N
c.241G>A
1 paper
NM_014028.4
p.D81V
c.242A>T
1 paper
NM_014028.4
p.Q64H
c.192G>C
1 paper
NM_014028.4
p.D57E
c.171C>A
1 paper
NM_014028.4
p.T99insFs
c.296_297insC
1 paper
NM_014028.4
p.D45G
c.134A>G
1 paper
NM_014028.4
p.D45Y
c.133G>T
2 papers
NM_014028.4
p.S105G
c.313A>G
1 paper
NM_014028.4
p.V42delFs
c.124delC
1 paper
NM_014028.4
p.V42fs
c.124_125fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."