Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.N438S

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
1 paper
NM_000277.3
p.N438S
c.1313A>G
Surrounding Variants
3 papers
NM_000277.3
p.N438I
c.1313A>T
1 paper
NM_000277.3
p.N438fs
c.1312_1313fs
1 paper
NM_000277.3
p.I437I
c.1311T>C
1 paper
NM_000277.3
p.S439C
c.1315A>T
3 papers
NM_000277.3
p.S439Splc
c.1315+1G>T
2 papers
NM_000277.3
p.S439Splc
c.1315+1G>C
138 papers
NM_000277.3
p.S439Splc
c.1315+1G>A
4 papers
NM_000277.3
p.S439Splc
c.1315+2T>C
8 papers
NM_000277.3
p.S439Splc
c.1315+4A>G
2 papers
NM_000277.3
p.S439Splc
c.1315+5G>C
4 papers
NM_000277.3
p.S439Splc
c.1315+5G>A
1 paper
NM_000277.3
p.D435E
c.1305T>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."