Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.L338P

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
8 papers
NM_032756.4
p.L338P
c.1013T>C
Surrounding Variants
3 papers
NM_032756.4
p.Q342_R343ins4
c.1024_1028ins12
4 papers
NM_032756.4
p.Q342*
c.1024C>T
1 paper
NM_032756.4
p.R343S
c.1029G>C
1 paper
NM_032756.4
p.R343S
c.1029G>T
6 papers
NM_032756.4
p.T332fs
c.994_995fs
3 papers
NM_032756.4
p.T332delFs
c.995delC
2 papers
NM_032756.4
p.T332fs
c.994_995fs
1 paper
NM_032756.4
p.T347delFs
c.1040delC
1 paper
NM_032756.4
p.T347fs
c.1039_1040fs
1 paper
NM_032756.4
p.G348C
c.1042G>T
4 papers
NM_032756.4
p.Q351*
c.1051C>T
1 paper
NM_032756.4
p.N353I
c.1058A>T
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