Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.S196Y

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.S196Y
c.587C>A
Surrounding Variants
1 paper
NM_000277.3
p.S196T
c.586T>A
4 papers
NM_000277.3
p.S196fs
c.586_587fs
1 paper
NM_000277.3
p.S196fs
c.586_587fs
2 papers
NM_000277.3
p.K195insFs
c.584dupA
1 paper
NM_000277.3
p.L197fs
c.589_590fs
1 paper
NM_000277.3
p.L197S
c.590T>C
2 papers
NM_000277.3
p.L197*
c.590T>A
4 papers
NM_000277.3
p.L197F
c.591G>T
1 paper
NM_000277.3
p.L197fs
c.589_590fs
5 papers
NM_000277.3
p.L197F
c.591G>C
1 paper
NM_000277.3
p.K195E
c.583A>G
4 papers
NM_000277.3
p.Y198D
c.592T>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."