Varaico: Literature-Extracted Genetic Variants

Gene:AGMO
Variant:p.W111L

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.W111L
c.332G>T
Surrounding Variants
1 paper
NM_001004320.2
p.P114T
c.340C>A
1 paper
NM_001004320.2
p.W115C
c.345G>C
1 paper
NM_001004320.2
p.T116I
c.347C>T
1 paper
NM_001004320.2
p.N103insFs
c.308_309insC
1 paper
NM_001004320.2
p.W101C
c.303G>C
1 paper
NM_001004320.2
p.V124D
c.371T>A
1 paper
NM_001004320.2
p.S96C
c.286A>T
1 paper
NM_001004320.2
p.T95T
c.285C>G
1 paper
NM_001004320.2
p.T95I
c.284C>T
1 paper
NM_001004320.2
p.G127G
c.381C>G
1 paper
NM_001004320.2
p.Y128*
c.384C>G
1 paper
NM_001004320.2
p.Y128*
c.384C>A
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