Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.L261V

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
3 papers
NM_032756.4
p.L261V
c.781C>G
Surrounding Variants
6 papers
NM_032756.4
p.G260E
c.779G>A
1 paper
NM_032756.4
p.G260R
c.778G>A
1 paper
NM_032756.4
p.G260R
c.778G>C
9 papers
NM_032756.4
p.T263R
c.788C>G
9 papers
NM_032756.4
p.T263M
c.788C>T
2 papers
NM_032756.4
p.T263delFs
c.789delG
1 paper
NM_032756.4
p.P264fs
c.790_791fs
1 paper
NM_032756.4
p.P264fs
c.790_791fs
4 papers
NM_032756.4
p.Q257fs
c.769_770fs
3 papers
NM_032756.4
p.Q257Fs
c.769_771delinsTCFs
9 papers
NM_032756.4
p.I266T
c.797T>C
6 papers
NM_032756.4
p.H251Q
c.753C>A
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