Varaico: Literature-Extracted Genetic Variants

Gene:AGMO
Variant:p.A78T

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.A78T
c.232G>A
Surrounding Variants
1 paper
NM_001004320.2
p.G79C
c.235G>T
1 paper
NM_001004320.2
p.G79R
c.235G>C
1 paper
NM_001004320.2
p.G79D
c.236G>A
2 papers
NM_001004320.2
p.V80I
c.238G>A
1 paper
NM_001004320.2
p.L81delFs
c.242delA
1 paper
NM_001004320.2
p.T74M
c.221C>T
1 paper
NM_001004320.2
p.S82F
c.245C>T
1 paper
NM_001004320.2
p.R83G
c.247C>G
1 paper
NM_001004320.2
p.A72G
c.215C>G
1 paper
NM_001004320.2
p.D71N
c.211G>A
1 paper
NM_001004320.2
p.L69L
c.205C>T
1 paper
NM_001004320.2
p.R68P
c.203G>C
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