Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.I374V

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.I374V
c.1120A>G
Surrounding Variants
1 paper
NM_000277.3
p.A373_I374insFs
c.1119_1120insT
2 papers
NM_000277.3
p.A373fs
c.1117_1118fs
1 paper
NM_000277.3
p.A373A
c.1119C>A
1 paper
NM_000277.3
p.A373V
c.1118C>T
2 papers
NM_000277.3
p.A373P
c.1117G>C
15 papers
NM_000277.3
p.A373T
c.1117G>A
20 papers
NM_000277.3
p.Q375E
c.1123C>G
3 papers
NM_000277.3
p.Q375R
c.1124A>G
5 papers
NM_000277.3
p.T372R
c.1115C>G
2 papers
NM_000277.3
p.Q375H
c.1125A>T
2 papers
NM_000277.3
p.Q375H
c.1125A>C
3 papers
NM_000277.3
p.N376fs
c.1126_1127fs
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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."