Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.R37P

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.R37P
c.110G>C
Surrounding Variants
1 paper
NM_032756.4
p.E38D
c.114G>C
8 papers
NM_032756.4
p.Q32*
c.94C>T
1 paper
NM_032756.4
p.F31L
c.93C>A
1 paper
NM_032756.4
p.F31L
c.93C>G
1 paper
NM_032756.4
p.F31L
c.91T>C
4 papers
NM_032756.4
p.Q44L
c.131A>T
1 paper
NM_032756.4
p.L45Q
c.134T>A
1 paper
NM_032756.4
p.S49R
c.145A>C
7 papers
NM_032756.4
p.G50_D51del1
c.149_151delGCG
1 paper
NM_032756.4
p.S49R
c.147C>A
1 paper
NM_032756.4
p.S49R
c.147C>G
10 papers
NM_032756.4
p.G50D
c.149G>A
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."