Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.Q279*

HPDL

70 papers

RefSeq Summary

The protein encoded by this intronless gene localizes to mitochondria, where it may function as 4-hydroxyphenylpyruvate dioxygenase. Clinical studies have identified several bi-allelic variants in thi...

Gene Aliases

HGNC Name

4-hydroxyphenylpyruvate dioxygenase like

HGNC Previous Symbol

GLOXD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_032756.4
p.Q279*
c.835C>T
Surrounding Variants
1 paper
NM_032756.4
p.G278D
c.833G>A
1 paper
NM_032756.4
p.G278S
c.832G>A
7 papers
NM_032756.4
p.P283S
c.847C>T
1 paper
NM_032756.4
p.P284A
c.850C>G
1 paper
NM_032756.4
p.P284delFs
c.852delT
1 paper
NM_032756.4
p.V273A
c.818T>C
3 papers
NM_032756.4
p.V273fs
c.817_818fs
1 paper
NM_032756.4
p.G272G
c.816G>A
1 paper
NM_032756.4
p.G272R
c.814G>A
1 paper
NM_032756.4
p.A286T
c.856G>A
1 paper
NM_032756.4
p.G272R
c.814G>C
1 paper
NM_032756.4
p.G272_V273delFs
c.816_817delGG
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