Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.G140R

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
6 papers
NM_032756.4
p.G140R
c.418G>A
Surrounding Variants
5 papers
NM_032756.4
p.G140R
c.418G>C
3 papers
NM_032756.4
p.G140E
c.419G>A
1 paper
NM_032756.4
p.F146V
c.436T>G
4 papers
NM_032756.4
p.V149_S151del3
c.445_452del9
1 paper
NM_032756.4
p.L130R
c.389T>G
7 papers
NM_032756.4
p.G126S
c.376G>A
1 paper
NM_032756.4
p.G154R
c.460G>C
5 papers
NM_032756.4
p.W157R
c.469T>A
7 papers
NM_032756.4
p.W157R
c.469T>C
2 papers
NM_032756.4
p.S122delFs
c.365delG
4 papers
NM_032756.4
p.Y118*
c.354C>A
4 papers
NM_032756.4
p.Y118*
c.354C>G
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