Varaico: Literature-Extracted Genetic Variants

Gene:HPDL

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
1–12 of 160 variants
11 papers
NM_032756.4
p.L217P
c.650T>C
10 papers
NM_032756.4
p.G50D
c.149G>A
10 papers
NM_032756.4
p.A78T
c.232G>A
9 papers
NM_032756.4
p.T263R
c.788C>G
9 papers
NM_032756.4
p.T263M
c.788C>T
9 papers
NM_032756.4
p.I266T
c.797T>C
8 papers
NM_032756.4
p.Q32*
c.94C>T
8 papers
NM_032756.4
p.P190L
c.569C>T
8 papers
NM_032756.4
p.L338P
c.1013T>C
8 papers
NM_032756.4
p.W358G
c.1072T>G
7 papers
NM_032756.4
p.R37P
c.110G>C
7 papers
NM_032756.4
p.G50_D51del1
c.149_151delGCG
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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."