Varaico: Literature-Extracted Genetic Variants

Gene:AGMO
Variant:p.I242del1

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.I242del1
c.724_726delAAT
Surrounding Variants
1 paper
NM_001004320.2
p.W243*
c.728G>A
1 paper
NM_001004320.2
p.W243C
c.729G>T
1 paper
NM_001004320.2
p.W243C
c.729G>C
1 paper
NM_001004320.2
p.W243*
c.729G>A
1 paper
NM_001004320.2
p.V239L
c.715G>C
1 paper
NM_001004320.2
p.G238C
c.712G>T
1 paper
NM_001004320.2
p.Y236del1
c.706_707delATA
1 paper
NM_001004320.2
p.N235S
c.704A>G
4 papers
NM_001004320.2
p.K234R
c.701A>G
1 paper
NM_001004320.2
p.H263Y
c.787C>T
1 paper
NM_001004320.2
p.P264L
c.791C>T
1 paper
NM_001004320.2
p.V223L
c.667G>C
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