Varaico: Literature-Extracted Genetic Variants

Gene:AGMO
Variant:p.L215fs

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.L215fs
c.643_644fs
Surrounding Variants
1 paper
NM_001004320.2
p.L215V
c.643C>G
1 paper
NM_001004320.2
p.L213M
c.637C>A
1 paper
NM_001004320.2
p.E212Q
c.634G>C
1 paper
NM_001004320.2
p.P218L
c.653C>T
1 paper
NM_001004320.2
p.P210R
c.629C>G
1 paper
NM_001004320.2
p.G209insFs
c.626_627insT
1 paper
NM_001004320.2
p.H221Y
c.661C>T
1 paper
NM_001004320.2
p.R222K
c.665G>A
1 paper
NM_001004320.2
p.V223L
c.667G>C
4 papers
NM_001004320.2
p.K234R
c.701A>G
1 paper
NM_001004320.2
p.N235S
c.704A>G
1 paper
NM_001004320.2
p.Y236del1
c.706_707delATA
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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."