Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.P106delFs

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.P106delFs
c.318delC
Surrounding Variants
2 papers
NM_032756.4
p.G114C
c.340G>T
4 papers
NM_032756.4
p.G114_A115insFs
c.342_345dup4
1 paper
NM_032756.4
p.G114_A115insFs
c.342_343ins4
3 papers
NM_032756.4
p.G114_A115insFs
c.342_343ins4
2 papers
NM_032756.4
p.A115fs
c.343_344fs
1 paper
NM_032756.4
p.A115fs
c.343_344fs
2 papers
NM_032756.4
p.A116fs
c.346_347fs
1 paper
NM_032756.4
p.A116fs
c.346_347fs
1 paper
NM_032756.4
p.E94fs
c.280_281fs
1 paper
NM_032756.4
p.Y118insFs
c.353dupA
1 paper
NM_032756.4
p.E94delFs
c.280delG
4 papers
NM_032756.4
p.Y118*
c.354C>A
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