Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L369V

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.L369V
c.1105C>G
Surrounding Variants
1 paper
NM_000277.3
p.L369insFs
c.1106_1107ins4
1 paper
NM_000277.3
p.L369_E370insFs
c.1107_1108ins4
1 paper
NM_000277.3
p.E368G
c.1103A>G
2 papers
NM_000277.3
p.E368K
c.1102G>A
1 paper
NM_000277.3
p.E370K
c.1108G>A
3 papers
NM_000277.3
p.E370fs
c.1108_1109fs
1 paper
NM_000277.3
p.L367L
c.1101G>A
1 paper
NM_000277.3
p.L365_P366del2
c.1093_1097del6
2 papers
NM_000277.3
p.E370G
c.1109A>G
1 paper
NM_000277.3
p.E370A
c.1109A>C
6 papers
NM_000277.3
p.L367insFs
c.1099_1100insC
2 papers
NM_000277.3
p.L367R
c.1100T>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."