Varaico: Literature-Extracted Genetic Variants

Gene:PHYH
Variant:p.N71fs

PHYH

151 papers

RefSeq Summary

This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA t...

Pfam Domains

PhyHaa 61–277UCSCPhytanoyl-CoA dioxygenase (PhyH)

Gene Aliases

HGNC Name

phytanoyl-CoA 2-hydroxylase

HGNC Alias Symbols

PAHX; PHYH1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006214.4
p.N71fs
c.211_212fs
Surrounding Variants
1 paper
NM_006214.4
p.N71delFs
c.212delT
1 paper
NM_006214.4
p.L72I
c.214C>A
1 paper
NM_006214.4
p.G65insFs
c.193_194insA
1 paper
NM_006214.4
p.N64_G65insFs
c.192_193insA
1 paper
NM_006214.4
p.N64I
c.191A>T
1 paper
NM_006214.4
p.F81S
c.242T>C
3 papers
NM_006214.4
p.R82G
c.244C>G
1 paper
NM_006214.4
p.R58I
c.173G>T
4 papers
NM_006214.4
p.L55delFs
c.164delA
7 papers
NM_006214.4
p.N51N
c.153C>T
1 paper
NM_006214.4
p.Y46C
c.137A>G
4 papers
NM_006214.4
p.Q45Splc
c.135-1G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."