Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.N133_Q134delFs

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
6 papers
NM_000277.3
p.N133_Q134delFs
c.398_401del4
Surrounding Variants
1 paper
NM_000277.3
p.Q134Q
c.402G>A
1 paper
NM_000277.3
p.Q134delFs
c.400delG
1 paper
NM_000277.3
p.Q134*
c.400C>T
2 papers
NM_000277.3
p.N133delFs
c.399delA
1 paper
NM_000277.3
p.F131_N133del3
c.391_398del9
1 paper
NM_000277.3
p.N133_Q134insFs
c.399_400insA
1 paper
NM_000277.3
p.L136insFs
c.406_407insT
1 paper
NM_000277.3
p.I135delFs
c.404delA
1 paper
NM_000277.3
p.N133I
c.398A>T
4 papers
NM_000277.3
p.N133fs
c.397_398fs
1 paper
NM_000277.3
p.N133D
c.397A>G
1 paper
NM_000277.3
p.A132A
c.396C>A
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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."