Varaico: Literature-Extracted Genetic Variants

Gene:AGMO
Variant:p.W304L

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.W304L
c.911G>T
Surrounding Variants
1 paper
NM_001004320.2
p.W304R
c.910T>C
1 paper
NM_001004320.2
p.W304R
c.910T>A
1 paper
NM_001004320.2
p.G307C
c.919G>T
1 paper
NM_001004320.2
p.G301E
c.902G>A
1 paper
NM_001004320.2
p.K300N
c.900G>T
1 paper
NM_001004320.2
p.K300N
c.900G>C
1 paper
NM_001004320.2
p.K308_P309insC
c.922_926ins3
1 paper
NM_001004320.2
p.P309R
c.926C>G
1 paper
NM_001004320.2
p.V297A
c.890T>C
1 paper
NM_001004320.2
p.F292I
c.874T>A
1 paper
NM_001004320.2
p.G290*
c.868G>T
1 paper
NM_001004320.2
p.E319K
c.955G>A
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