Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.V399V

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
72 papers
NM_000277.3
p.V399V
c.1197A>T
Surrounding Variants
6 papers
NM_000277.3
p.V399A
c.1196T>C
3 papers
NM_000277.3
p.R400R
c.1198A>C
1 paper
NM_000277.3
p.R400M
c.1199G>T
16 papers
NM_000277.3
p.R400T
c.1199G>C
22 papers
NM_000277.3
p.R400K
c.1199G>A
1 paper
NM_000277.3
p.R400delFs
c.1198delT
1 paper
NM_000277.3
p.R400Splc
c.1199+1G>T
40 papers
NM_000277.3
p.R400Splc
c.1199+1G>C
6 papers
NM_000277.3
p.R400Splc
c.1199+1G>A
3 papers
NM_000277.3
p.K398N
c.1194A>T
9 papers
NM_000277.3
p.K398K
c.1194A>G
3 papers
NM_000277.3
p.K398N
c.1194A>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."