Varaico: Literature-Extracted Genetic Variants

Gene:AGMO
Variant:p.F275L

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.F275L
c.823T>C
Surrounding Variants
1 paper
NM_001004320.2
p.F275L
c.825C>G
1 paper
NM_001004320.2
p.F275L
c.825C>A
1 paper
NM_001004320.2
p.I281insFs
c.841_842insT
2 papers
NM_001004320.2
p.I281insFs
c.842dupT
2 papers
NM_001004320.2
p.W282fs
c.844_845fs
1 paper
NM_001004320.2
p.W282fs
c.844_845fs
1 paper
NM_001004320.2
p.T284I
c.851C>T
1 paper
NM_001004320.2
p.A287P
c.859G>C
2 papers
NM_001004320.2
p.T288K
c.863C>A
1 paper
NM_001004320.2
p.G290*
c.868G>T
1 paper
NM_001004320.2
p.F292I
c.874T>A
1 paper
NM_001004320.2
p.V297A
c.890T>C
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