Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L367R

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
2 papers
NM_000277.3
p.L367R
c.1100T>G
Surrounding Variants
6 papers
NM_000277.3
p.L367insFs
c.1099_1100insC
2 papers
NM_000277.3
p.L367P
c.1100T>C
1 paper
NM_000277.3
p.L367Q
c.1100T>A
1 paper
NM_000277.3
p.L365delFs
c.1095delG
1 paper
NM_000277.3
p.L367L
c.1101G>A
4 papers
NM_000277.3
p.L367fs
c.1099_1100fs
1 paper
NM_000277.3
p.L365_P366del2
c.1093_1097del6
3 papers
NM_000277.3
p.L367V
c.1099C>G
2 papers
NM_000277.3
p.E368K
c.1102G>A
1 paper
NM_000277.3
p.L365_P366Fs
c.1093_1098delinsGFs
19 papers
NM_000277.3
p.P366H
c.1097C>A
2 papers
NM_000277.3
p.L365del1
c.1093_1094delGAG
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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."