Varaico: Literature-Extracted Genetic Variants

Gene:AGMO
Variant:p.A43P

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.A43P
c.127G>C
Surrounding Variants
1 paper
NM_001004320.2
p.T44S
c.131C>G
1 paper
NM_001004320.2
p.L50V
c.148T>G
1 paper
NM_001004320.2
p.L52P
c.155T>C
1 paper
NM_001004320.2
p.L53H
c.158T>A
1 paper
NM_001004320.2
p.E54Q
c.160G>C
1 paper
NM_001004320.2
p.V56A
c.167T>C
1 paper
NM_001004320.2
p.P65L
c.194C>T
1 paper
NM_001004320.2
p.P66S
c.196C>T
1 paper
NM_001004320.2
p.P66R
c.197C>G
1 paper
NM_001004320.2
p.R68P
c.203G>C
1 paper
NM_001004320.2
p.L69L
c.205C>T
1 paper
NM_001004320.2
p.D71N
c.211G>A
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