Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.A78T

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
10 papers
NM_032756.4
p.A78T
c.232G>A
Surrounding Variants
1 paper
NM_032756.4
p.N80D
c.238A>G
1 paper
NM_032756.4
p.V75M
c.223G>A
1 paper
NM_032756.4
p.R72L
c.215G>T
3 papers
NM_032756.4
p.R72_P76Fs
c.215_226delinsTGTACGGCCTGGATFs
2 papers
NM_032756.4
p.R72fs
c.214_215fs
2 papers
NM_032756.4
p.R72fs
c.214_215fs
1 paper
NM_032756.4
p.D84Y
c.250G>T
1 paper
NM_032756.4
p.R72_P76del0
c.215_226del12
4 papers
NM_032756.4
p.A86delFs
c.256delG
5 papers
NM_032756.4
p.A86fs
c.256_257fs
1 paper
NM_032756.4
p.A86fs
c.256_257fs
1 paper
NM_032756.4
p.A88T
c.262G>A
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