Varaico: Literature-Extracted Genetic Variants

Gene:MSMO1
Variant:p.G115R

MSMO1

47 papers

RefSeq Summary

Sterol-C4-mehtyl oxidase-like protein was isolated based on its similarity to the yeast ERG25 protein. It contains a set of putative metal binding motifs with similarity to that seen in a family of me...

Pfam Domains

FA_hydroxylaseaa 142–274UCSCFatty acid hydroxylase

Gene Aliases

HGNC Name

methylsterol monooxygenase 1

HGNC Previous Symbol

SC4MOL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_006745.5
p.G115R
c.343G>C
Surrounding Variants
3 papers
NM_006745.5
p.G115R
c.343G>A
1 paper
NM_006745.5
p.G115A
c.344G>C
1 paper
NM_006745.5
p.P126A
c.376C>G
1 paper
NM_006745.5
p.H153fs
c.457_458fs
1 paper
NM_006745.5
p.H153delFs
c.459delC
1 paper
NM_006745.5
p.H161H
c.483C>T
1 paper
NM_006745.5
p.K163I
c.488A>T
1 paper
NM_006745.5
p.V172D
c.515T>A
4 papers
NM_006745.5
p.H173Q
c.519T>A
4 papers
NM_006745.5
p.H173Q
c.519T>G
1 paper
NM_006745.5
p.P179L
c.536C>T
1 paper
NM_006745.5
p.E183A
c.548A>C
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