Varaico: Literature-Extracted Genetic Variants

Gene:OSTM1
Variant:p.N178_S179delFs

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.N178_S179delFs
c.532_536del5
Surrounding Variants
1 paper
NM_014028.4
p.L197M
c.589C>A
1 paper
NM_014028.4
p.G206E
c.617G>A
1 paper
NM_014028.4
p.G206insFs
c.616dupG
1 paper
NM_014028.4
p.S210R
c.628A>C
1 paper
NM_014028.4
p.S210R
c.630T>G
1 paper
NM_014028.4
p.S210R
c.630T>A
1 paper
NM_014028.4
p.L211fs
c.631_632fs
1 paper
NM_014028.4
p.T230fs
c.688_689fs
1 paper
NM_014028.4
p.E245A
c.734A>C
1 paper
NM_014028.4
p.P250T
c.748C>A
1 paper
NM_014028.4
p.L254L
c.760T>C
3 papers
NM_014028.4
p.A261_M262Splc
c.783+5G>T
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