Varaico: Literature-Extracted Genetic Variants

Gene:MSMO1
Variant:p.K79insFs

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
1 paper
NM_006745.5
p.K79insFs
c.235dupA
Surrounding Variants
1 paper
NM_006745.5
p.K80Q
c.238A>C
1 paper
NM_006745.5
p.Y81fs
c.241_242fs
1 paper
NM_006745.5
p.A60D
c.179C>A
1 paper
NM_006745.5
p.A36A
c.108T>C
1 paper
NM_006745.5
p.Q30*
c.88C>T
1 paper
NM_006745.5
p.N27T
c.80A>C
1 paper
NM_006745.5
p.E18V
c.53A>T
3 papers
NM_006745.5
p.G115R
c.343G>A
3 papers
NM_006745.5
p.G115R
c.343G>C
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
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