Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.A140delFs

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.A140delFs
c.420delC
Surrounding Variants
1 paper
NM_000277.3
p.A140A
c.420G>C
2 papers
NM_000277.3
p.L142P
c.425T>C
3 papers
NM_000277.3
p.A140V
c.419C>T
1 paper
NM_000277.3
p.A140E
c.419C>A
3 papers
NM_000277.3
p.G139E
c.416G>A
3 papers
NM_000277.3
p.D143V
c.428A>T
23 papers
NM_000277.3
p.D143G
c.428A>G
1 paper
NM_000277.3
p.G139R
c.415G>A
1 paper
NM_000277.3
p.Y138insFs
c.413dupA
1 paper
NM_000277.3
p.Y138*
c.414T>G
1 paper
NM_000277.3
p.Y138*
c.414T>A
1 paper
NM_000277.3
p.Y138delFs
c.413delT
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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."