Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.S339Y

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
1 paper
NM_000277.3
p.S339Y
c.1016C>A
Surrounding Variants
2 papers
NM_000277.3
p.S339F
c.1016C>T
1 paper
NM_000277.3
p.D338E
c.1014C>G
1 paper
NM_000277.3
p.I340V
c.1018A>G
3 papers
NM_000277.3
p.I340T
c.1019T>C
1 paper
NM_000277.3
p.D338A
c.1013A>C
18 papers
NM_000277.3
p.D338Y
c.1012G>T
2 papers
NM_000277.3
p.K341*
c.1021A>T
1 paper
NM_000277.3
p.G337V
c.1010G>T
1 paper
NM_000277.3
p.G337E
c.1010G>A
1 paper
NM_000277.3
p.K341R
c.1022A>G
2 papers
NM_000277.3
p.K341T
c.1022A>C
2 papers
NM_000277.3
p.K341N
c.1023G>T
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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."