Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.K293K

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
1 paper
NM_032756.4
p.K293K
c.879G>A
Surrounding Variants
1 paper
NM_032756.4
p.G292E
c.875G>A
1 paper
NM_032756.4
p.P291S
c.871C>T
1 paper
NM_032756.4
p.Y288H
c.862T>C
7 papers
NM_032756.4
p.Y287H
c.859T>C
1 paper
NM_032756.4
p.A286T
c.856G>A
6 papers
NM_032756.4
p.G301V
c.902G>T
1 paper
NM_032756.4
p.P284delFs
c.852delT
1 paper
NM_032756.4
p.P284A
c.850C>G
7 papers
NM_032756.4
p.P283S
c.847C>T
1 paper
NM_032756.4
p.L307P
c.920T>C
3 papers
NM_032756.4
p.Q279*
c.835C>T
1 paper
NM_032756.4
p.G278D
c.833G>A
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