Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L348V

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
102 papers
NM_000277.3
p.L348V
c.1042C>G
Surrounding Variants
1 paper
NM_000277.3
p.G346_L347del2
c.1036_1040del6
3 papers
NM_000277.3
p.G344_L347del4
c.1030_1040del12
2 papers
NM_000277.3
p.L348P
c.1043T>C
1 paper
NM_000277.3
p.G346_L347del1
c.1038_1040delAGC
1 paper
NM_000277.3
p.L347H
c.1040T>A
36 papers
NM_000277.3
p.S349A
c.1045T>G
96 papers
NM_000277.3
p.S349P
c.1045T>C
1 paper
NM_000277.3
p.S349T
c.1045T>A
1 paper
NM_000277.3
p.L347F
c.1039C>T
11 papers
NM_000277.3
p.S349L
c.1046C>T
1 paper
NM_000277.3
p.G346E
c.1037G>A
3 papers
NM_000277.3
p.S350T
c.1048T>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."