Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.N223Y

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
4 papers
NM_000277.3
p.N223Y
c.667A>T
Surrounding Variants
1 paper
NM_000277.3
p.N223fs
c.667_668fs
2 papers
NM_000277.3
p.N223D
c.667A>G
1 paper
NM_000277.3
p.D222E
c.666T>G
1 paper
NM_000277.3
p.D222E
c.666T>A
14 papers
NM_000277.3
p.D222delFs
c.664_665delTC
3 papers
NM_000277.3
p.N223I
c.668A>T
1 paper
NM_000277.3
p.N223S
c.668A>G
4 papers
NM_000277.3
p.D222V
c.665A>T
21 papers
NM_000277.3
p.D222G
c.665A>G
1 paper
NM_000277.3
p.D222A
c.665A>C
1 paper
NM_000277.3
p.D222delFs
c.664delC
1 paper
NM_000277.3
p.D222H
c.664G>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."