Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.W157R

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
7 papers
NM_032756.4
p.W157R
c.469T>C
Surrounding Variants
5 papers
NM_032756.4
p.W157R
c.469T>A
1 paper
NM_032756.4
p.G154R
c.460G>C
7 papers
NM_032756.4
p.L164P
c.491T>C
3 papers
NM_032756.4
p.T165P
c.493A>C
4 papers
NM_032756.4
p.V149_S151del3
c.445_452del9
1 paper
NM_032756.4
p.C168R
c.502T>C
1 paper
NM_032756.4
p.F146V
c.436T>G
7 papers
NM_032756.4
p.C168Y
c.503G>A
4 papers
NM_032756.4
p.S173Y
c.518C>A
3 papers
NM_032756.4
p.G140E
c.419G>A
6 papers
NM_032756.4
p.G140R
c.418G>A
5 papers
NM_032756.4
p.G140R
c.418G>C
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."