Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Y166C

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.Y166C
c.497A>G
Surrounding Variants
45 papers
NM_000277.3
p.Y166*
c.498C>G
39 papers
NM_000277.3
p.Y166*
c.498C>A
6 papers
NM_000277.3
p.N167Y
c.499A>T
1 paper
NM_000277.3
p.N167D
c.499A>G
7 papers
NM_000277.3
p.A165D
c.494C>A
15 papers
NM_000277.3
p.N167I
c.500A>T
7 papers
NM_000277.3
p.N167S
c.500A>G
2 papers
NM_000277.3
p.I164insFs
c.492dupT
3 papers
NM_000277.3
p.A165P
c.493G>C
9 papers
NM_000277.3
p.A165T
c.493G>A
2 papers
NM_000277.3
p.A165fs
c.493_494fs
10 papers
NM_000277.3
p.Y168H
c.502T>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."