Varaico: Literature-Extracted Genetic Variants

Gene:PHYH
Variant:p.G228insFs

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
5 papers
NM_006214.4
p.G228insFs
c.683dupG
Surrounding Variants
2 papers
NM_006214.4
p.V229fs
c.685_686fs
1 paper
NM_006214.4
p.G228E
c.683G>A
1 paper
NM_006214.4
p.G228*
c.682G>T
1 paper
NM_006214.4
p.G227R
c.679G>C
1 paper
NM_006214.4
p.G227R
c.679G>A
2 papers
NM_006214.4
p.E226_G227Splc
c.679-1G>T
1 paper
NM_006214.4
p.E241G
c.722A>G
1 paper
NM_006214.4
p.A244T
c.730G>A
1 paper
NM_001323083.2
p.A156D
c.467C>A
15 papers
NM_006214.4
p.R245Q
c.734G>A
1 paper
NM_006214.4
p.T255P
c.763A>C
5 papers
NM_006214.4
p.F257S
c.770T>C
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