Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.I269V

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.I269V
c.805A>G
Surrounding Variants
1 paper
NM_000277.3
p.I269fs
c.805_806fs
12 papers
NM_000277.3
p.I269L
c.805A>C
2 papers
NM_000277.3
p.I269T
c.806T>C
9 papers
NM_000277.3
p.I269N
c.806T>A
2 papers
NM_000277.3
p.Y268*
c.804C>G
1 paper
NM_000277.3
p.Y268insFs
c.803_804insA
2 papers
NM_000277.3
p.Y268*
c.804C>A
1 paper
NM_000277.3
p.I269fs
c.805_806fs
5 papers
NM_000277.3
p.I269delFs
c.806delA
9 papers
NM_000277.3
p.Y268C
c.803A>G
1 paper
NM_000277.3
p.Y268H
c.802T>C
3 papers
NM_000277.3
p.R270G
c.808A>G
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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."