Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.W179C

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
4 papers
NM_032756.4
p.W179C
c.537G>T
Surrounding Variants
5 papers
NM_032756.4
p.W179*
c.537G>A
4 papers
NM_032756.4
p.W179C
c.537G>C
5 papers
NM_032756.4
p.W179*
c.536G>A
1 paper
NM_032756.4
p.L177F
c.531G>C
1 paper
NM_032756.4
p.L177F
c.531G>T
1 paper
NM_032756.4
p.L177fs
c.529_530fs
6 papers
NM_032756.4
p.L176P
c.527T>C
1 paper
NM_032756.4
p.L177delFs
c.529_530delTT
2 papers
NM_032756.4
p.T175fs
c.523_524fs
1 paper
NM_032756.4
p.T175_L177delFs
c.523_529del7
4 papers
NM_032756.4
p.S173Y
c.518C>A
8 papers
NM_032756.4
p.P190L
c.569C>T
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