Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.F392S

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
3 papers
NM_000277.3
p.F392S
c.1175T>C
Surrounding Variants
37 papers
NM_000277.3
p.F392I
c.1174T>A
1 paper
NM_000277.3
p.S391delFs
c.1171_1172delCT
2 papers
NM_000277.3
p.N393fs
c.1177_1178fs
1 paper
NM_000277.3
p.N393D
c.1177A>G
1 paper
NM_000277.3
p.N393H
c.1177A>C
2 papers
NM_000277.3
p.N393insFs
c.1177_1178insT
5 papers
NM_000277.3
p.S391I
c.1172G>T
6 papers
NM_000277.3
p.S391T
c.1172G>C
1 paper
NM_000277.3
p.N393I
c.1178A>T
1 paper
NM_000277.3
p.N393S
c.1178A>G
1 paper
NM_000277.3
p.S391fs
c.1171_1172fs
2 papers
NM_000277.3
p.S391G
c.1171A>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."