Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.F161S

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
42 papers
NM_000277.3
p.F161S
c.482T>C
Surrounding Variants
1 paper
NM_000277.3
p.A162S
c.484G>T
1 paper
NM_000277.3
p.Q160insFs
c.479dupA
1 paper
NM_000277.3
p.A162P
c.484G>C
1 paper
NM_000277.3
p.Q160R
c.479A>G
5 papers
NM_000277.3
p.Q160P
c.479A>C
9 papers
NM_000277.3
p.Q160*
c.478C>T
1 paper
NM_000277.3
p.D163_I164ins4
c.487_491ins12
1 paper
NM_000277.3
p.D163H
c.487G>C
1 paper
NM_000277.3
p.D163N
c.487G>A
1 paper
NM_000277.3
p.D151_A162del12
c.451_485del36
2 papers
NM_000277.3
p.K159*
c.475A>T
10 papers
NM_000277.3
p.I164V
c.490A>G
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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."