Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Y198*

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.Y198*
c.594T>A
Surrounding Variants
12 papers
NM_000277.3
p.Y198fs
c.592_593fs
2 papers
NM_000277.3
p.Y198*
c.594T>G
1 paper
NM_000277.3
p.Y198C
c.593A>G
1 paper
NM_000277.3
p.F191_Y198ins2
c.572_592dup21
4 papers
NM_000277.3
p.Y198D
c.592T>G
1 paper
NM_000277.3
p.Y198N
c.592T>A
14 papers
NM_000277.3
p.Y198fs
c.592_593fs
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.L197S
c.590T>C
2 papers
NM_000277.3
p.L197*
c.590T>A
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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."