Varaico: Literature-Extracted Genetic Variants

Gene:OSTM1
Variant:p.S139delFs

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
5 papers
NM_014028.4
p.S139delFs
c.415_416delCT
Surrounding Variants
1 paper
NM_014028.4
p.S141T
c.422G>C
1 paper
NM_014028.4
p.C142Y
c.425G>A
1 paper
NM_014028.4
p.M148delFs
c.442delT
1 paper
NM_014028.4
p.A149insFs
c.446dupC
1 paper
NM_014028.4
p.D150fs
c.448_449fs
1 paper
NM_014028.4
p.V155I
c.463G>A
1 paper
NM_014028.4
p.S159L
c.476C>T
1 paper
NM_014028.4
p.N178_S179delFs
c.532_536del5
1 paper
NM_014028.4
p.L197M
c.589C>A
1 paper
NM_014028.4
p.D127H
c.379G>C
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