Varaico: Literature-Extracted Genetic Variants

Gene:AGMO
Variant:p.S157F

AGMO

83 papers

RefSeq Summary

The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, di...

Pfam Domains

FA_hydroxylaseaa 117–249UCSCFatty acid hydroxylase
AGMP_Caa 335–422UCSCAlkylglycerol monooxygenase C-terminal domain

Gene Aliases

HGNC Name

alkylglycerol monooxygenase

HGNC Previous Symbol

TMEM195

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001004320.2
p.S157F
c.470C>T
Surrounding Variants
1 paper
NM_001004320.2
p.S157P
c.469T>C
1 paper
NM_001004320.2
p.T158A
c.472A>G
1 paper
NM_001004320.2
p.T158I
c.473C>T
1 paper
NM_001004320.2
p.T158R
c.473C>G
1 paper
NM_001004320.2
p.A159T
c.475G>A
1 paper
NM_001004320.2
p.A159V
c.476C>T
1 paper
NM_001004320.2
p.S163C
c.488C>G
1 paper
NM_001004320.2
p.S150N
c.449G>A
3 papers
NM_001004320.2
p.H149Y
c.445C>T
2 papers
NM_001004320.2
p.G144R
c.430G>C
2 papers
NM_001004320.2
p.G144R
c.430G>A
1 paper
NM_001004320.2
p.W142S
c.425G>C
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