Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.H264Y

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
3 papers
NM_000277.3
p.H264Y
c.790C>T
Surrounding Variants
10 papers
NM_000277.3
p.F263L
c.789C>G
1 paper
NM_000277.3
p.F263insFs
c.788dupT
10 papers
NM_000277.3
p.F263L
c.789C>A
2 papers
NM_000277.3
p.H264L
c.791A>T
1 paper
NM_000277.3
p.H264R
c.791A>G
2 papers
NM_000277.3
p.H264delFs
c.790delG
1 paper
NM_000277.3
p.F263C
c.788T>G
40 papers
NM_000277.3
p.F263S
c.788T>C
2 papers
NM_000277.3
p.H264Q
c.792C>G
2 papers
NM_000277.3
p.H264Q
c.792C>A
5 papers
NM_000277.3
p.C265G
c.793T>G
10 papers
NM_000277.3
p.F263L
c.787T>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."