Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.I269_R270delFs

PAH

1,542 papers

RefSeq Summary

This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rat...

Pfam Domains

ACTaa 35–100UCSCACT domain
Biopterin_Haa 119–449UCSCBiopterin-dependent aromatic amino acid hydroxylase

Gene Aliases

HGNC Name

phenylalanine hydroxylase

HGNC Alias Symbol

PH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000277.3
p.I269_R270delFs
c.807_810del4
Surrounding Variants
6 papers
NM_000277.3
p.H271Q
c.813T>G
6 papers
NM_000277.3
p.H271Q
c.813T>A
106 papers
NM_000277.3
p.G272*
c.814G>T
3 papers
NM_000277.3
p.H271L
c.812A>T
7 papers
NM_000277.3
p.H271R
c.812A>G
2 papers
NM_000277.3
p.G272E
c.815G>A
4 papers
NM_000277.3
p.H271Y
c.811C>T
13 papers
NM_000277.3
p.R270S
c.810A>T
1 paper
NM_000277.3
p.R270R
c.810A>G
13 papers
NM_000277.3
p.R270S
c.810A>C
1 paper
NM_000277.3
p.S273P
c.817T>C
4 papers
NM_000277.3
p.R270I
c.809G>T
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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."