Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.E245K

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.E245K
c.733G>A
Surrounding Variants
1 paper
NM_032756.4
p.Q246*
c.736C>T
5 papers
NM_032756.4
p.L248P
c.743T>C
5 papers
NM_032756.4
p.Q241*
c.721C>T
6 papers
NM_032756.4
p.H251Q
c.753C>A
5 papers
NM_032756.4
p.H251Q
c.753C>G
5 papers
NM_032756.4
p.L234P
c.701T>C
3 papers
NM_032756.4
p.L234fs
c.700_701fs
4 papers
NM_032756.4
p.Q257fs
c.769_770fs
3 papers
NM_032756.4
p.Q257Fs
c.769_771delinsTCFs
5 papers
NM_032756.4
p.A231G
c.692C>G
1 paper
NM_032756.4
p.G260R
c.778G>A
1 paper
NM_032756.4
p.G260R
c.778G>C
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