Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.T266I

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
2 papers
NM_000277.3
p.T266I
c.797C>T
Surrounding Variants
1 paper
NM_000277.3
p.T266R
c.797C>G
3 papers
NM_000277.3
p.T266P
c.796A>C
4 papers
NM_000277.3
p.T266_Q267insC
c.796_800ins3
5 papers
NM_000277.3
p.Q267*
c.799C>T
9 papers
NM_000277.3
p.Q267E
c.799C>G
2 papers
NM_000277.3
p.C265*
c.795C>A
2 papers
NM_000277.3
p.C265S
c.794G>C
6 papers
NM_000277.3
p.C265Y
c.794G>A
9 papers
NM_000277.3
p.Q267L
c.800A>T
1 paper
NM_000277.3
p.Q267R
c.800A>G
1 paper
NM_000277.3
p.R261_Q267del0
c.782_799del18
5 papers
NM_000277.3
p.C265G
c.793T>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."