Varaico: Literature-Extracted Genetic Variants

Gene:AGMO
Variant:p.Q14*

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.Q14*
c.40C>T
Surrounding Variants
1 paper
NM_001004320.2
p.V12I
c.34G>A
1 paper
NM_001004320.2
p.S11L
c.32C>T
3 papers
NM_001004320.2
p.R17C
c.49C>T
1 paper
NM_001004320.2
p.Q8H
c.24G>T
1 paper
NM_001004320.2
p.Q8H
c.24G>C
1 paper
NM_001004320.2
p.F20L
c.58T>C
1 paper
NM_001004320.2
p.Q8*
c.22C>T
1 paper
NM_001004320.2
p.F20L
c.60T>G
1 paper
NM_001004320.2
p.F20L
c.60T>A
2 papers
NM_001004320.2
p.F20_Y21insFs
c.60_61dupTT
2 papers
NM_001004320.2
p.Y21fs
c.61_62fs
1 paper
NM_001004320.2
p.T22M
c.65C>T
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