Varaico: Literature-Extracted Genetic Variants

Gene:AGMO
Variant:p.H189D

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
2 papers
NM_001004320.2
p.H189D
c.565C>G
Surrounding Variants
1 paper
NM_001004320.2
p.F192L
c.574T>C
1 paper
NM_001004320.2
p.F192L
c.576C>G
1 paper
NM_001004320.2
p.F192L
c.576C>A
1 paper
NM_001004320.2
p.F180insFs
c.540dupC
1 paper
NM_001004320.2
p.Q197R
c.590A>G
1 paper
NM_001004320.2
p.L179I
c.535C>A
1 paper
NM_001004320.2
p.L177L
c.529C>T
1 paper
NM_001004320.2
p.T202I
c.605C>T
1 paper
NM_001004320.2
p.T202K
c.605C>A
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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."