Varaico: Literature-Extracted Genetic Variants

Gene:AGMO
Variant:p.I372N

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.I372N
c.1115T>A
Surrounding Variants
1 paper
NM_001004320.2
p.V369I
c.1105G>A
1 paper
NM_001004320.2
p.G380*
c.1138G>T
1 paper
NM_001004320.2
p.G380V
c.1139G>T
2 papers
NM_001004320.2
p.Q362*
c.1084C>T
1 paper
NM_001004320.2
p.L383V
c.1147C>G
1 paper
NM_001004320.2
p.L360V
c.1078C>G
1 paper
NM_001004320.2
p.A358_A359Splc
c.1075-108G>A
1 paper
NM_001004320.2
p.R386Splc
c.1158-1G>T
1 paper
NM_001004320.2
p.I391I
c.1173T>A
1 paper
NM_001004320.2
p.E393A
c.1178A>C
1 paper
NM_001004320.2
p.T394S
c.1180A>T
1 paper
NM_001004320.2
p.T394S
c.1181C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."