Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.A356fs

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.A356fs
c.1066_1067fs
Surrounding Variants
3 papers
NM_032756.4
p.A356fs
c.1066_1067fs
1 paper
NM_032756.4
p.R355R
c.1065A>G
3 papers
NM_032756.4
p.A356_L357delFs
c.1067_1071del5
1 paper
NM_032756.4
p.A356V
c.1067C>T
8 papers
NM_032756.4
p.W358G
c.1072T>G
1 paper
NM_032756.4
p.N353I
c.1058A>T
4 papers
NM_032756.4
p.Q351*
c.1051C>T
1 paper
NM_032756.4
p.G348C
c.1042G>T
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.R343S
c.1029G>C
1 paper
NM_032756.4
p.R343S
c.1029G>T
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