Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.G352delFs

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
20 papers
NM_000277.3
p.G352delFs
c.1055delC
Surrounding Variants
5 papers
NM_000277.3
p.G352fs
c.1054_1055fs
4 papers
NM_000277.3
p.E353*
c.1057G>T
1 paper
NM_000277.3
p.G352V
c.1055G>T
2 papers
NM_000277.3
p.G352delFs
c.1056delA
1 paper
NM_000277.3
p.E353fs
c.1057_1058fs
15 papers
NM_000277.3
p.G352fs
c.1054_1055fs
1 paper
NM_000277.3
p.G352C
c.1054G>T
9 papers
NM_000277.3
p.G352R
c.1054G>C
3 papers
NM_000277.3
p.G352S
c.1054G>A
1 paper
NM_000277.3
p.E353A
c.1058A>C
1 paper
NM_000277.3
p.F351L
c.1053T>G
1 paper
NM_000277.3
p.F351L
c.1053T>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."