Varaico: Literature-Extracted Genetic Variants

Gene:AGMO
Variant:p.H132D

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.H132D
c.394C>G
Surrounding Variants
1 paper
NM_001004320.2
p.F131delFs
c.393delG
1 paper
NM_001004320.2
p.R133H
c.398G>A
1 paper
NM_001004320.2
p.W130*
c.390G>A
2 papers
NM_001004320.2
p.W130*
c.389G>A
1 paper
NM_001004320.2
p.Y129*
c.387C>G
1 paper
NM_001004320.2
p.M134I
c.402G>C
1 paper
NM_001004320.2
p.Y129S
c.386A>C
1 paper
NM_001004320.2
p.Y128*
c.384C>G
1 paper
NM_001004320.2
p.Y128*
c.384C>A
1 paper
NM_001004320.2
p.G127G
c.381C>G
1 paper
NM_001004320.2
p.V124D
c.371T>A
1 paper
NM_001004320.2
p.T116I
c.347C>T
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