Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.G222C

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.G222C
c.664G>T
Surrounding Variants
1 paper
NM_032756.4
p.T227delFs
c.679delA
11 papers
NM_032756.4
p.L217P
c.650T>C
4 papers
NM_032756.4
p.T227fs
c.679_680fs
1 paper
NM_032756.4
p.T215_P226del12
c.643_677del36
5 papers
NM_032756.4
p.A231G
c.692C>G
3 papers
NM_032756.4
p.L234fs
c.700_701fs
5 papers
NM_032756.4
p.L234P
c.701T>C
1 paper
NM_032756.4
p.A205V
c.614C>T
5 papers
NM_032756.4
p.Q241*
c.721C>T
1 paper
NM_032756.4
p.G200fs
c.598_599fs
2 papers
NM_032756.4
p.G200fs
c.598_599fs
1 paper
NM_032756.4
p.L199P
c.596T>C
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