Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.G200delFs

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
2 papers
NM_032756.4
p.G200delFs
c.599delG
Surrounding Variants
1 paper
NM_032756.4
p.L199P
c.596T>C
1 paper
NM_032756.4
p.L199_G200Fs
c.596_599delinsCAGGTCAGGATFs
1 paper
NM_032756.4
p.L199fs
c.595_596fs
2 papers
NM_032756.4
p.L199fs
c.595_596fs
1 paper
NM_032756.4
p.L199_G200delFs
c.596_599del4
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.A205V
c.614C>T
8 papers
NM_032756.4
p.P190L
c.569C>T
1 paper
NM_032756.4
p.T215_P226del12
c.643_677del36
11 papers
NM_032756.4
p.L217P
c.650T>C
5 papers
NM_032756.4
p.W179*
c.537G>A
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