Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.Q310*

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.Q310*
c.928C>T
Surrounding Variants
1 paper
NM_032756.4
p.L307P
c.920T>C
1 paper
NM_032756.4
p.D315H
c.943G>C
3 papers
NM_032756.4
p.K318insFs
c.954dupA
6 papers
NM_032756.4
p.G301V
c.902G>T
1 paper
NM_032756.4
p.G319R
c.955G>C
3 papers
NM_032756.4
p.G319fs
c.955_956fs
4 papers
NM_032756.4
p.G319fs
c.955_956fs
1 paper
NM_032756.4
p.K293K
c.879G>A
1 paper
NM_032756.4
p.G292E
c.875G>A
1 paper
NM_032756.4
p.P291S
c.871C>T
6 papers
NM_032756.4
p.T332fs
c.994_995fs
3 papers
NM_032756.4
p.T332delFs
c.995delC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."