Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.R297C

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
20 papers
NM_000277.3
p.R297C
c.889C>T
Surrounding Variants
1 paper
NM_000277.3
p.D296D
c.888T>C
5 papers
NM_000277.3
p.R297L
c.890G>T
33 papers
NM_000277.3
p.R297H
c.890G>A
2 papers
NM_000277.3
p.D296G
c.887A>G
1 paper
NM_000277.3
p.S295insFs
c.885dupA
2 papers
NM_000277.3
p.D296H
c.886G>C
2 papers
NM_000277.3
p.D296N
c.886G>A
1 paper
NM_000277.3
p.S298R
c.892A>C
1 paper
NM_000277.3
p.S298N
c.893G>A
3 papers
NM_000277.3
p.S295*
c.884C>G
1 paper
NM_000277.3
p.S298R
c.894C>G
3 papers
NM_000277.3
p.S295*
c.884C>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."