Varaico: Literature-Extracted Genetic Variants

Gene:MSMO1
Variant:p.I241N

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.I241N
c.722T>A
Surrounding Variants
7 papers
NM_006745.5
p.Y244C
c.731A>G
1 paper
NM_006745.5
p.G246A
c.737G>C
1 paper
NM_006745.5
p.I233T
c.698T>C
1 paper
NM_006745.5
p.W268L
c.803G>T
1 paper
NM_006745.5
p.I271fs
c.811_812fs
1 paper
NM_006745.5
p.N282K
c.846T>A
1 paper
NM_006745.5
p.N282K
c.846T>G
1 paper
NM_006745.5
p.K284R
c.851A>G
3 papers
NM_006745.5
p.G202E
c.605G>A
1 paper
NM_006745.5
p.A187A
c.561A>T
1 paper
NM_006745.5
p.E183A
c.548A>C
1 paper
NM_006745.5
p.P179L
c.536C>T
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