Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E178G

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
68 papers
NM_000277.3
p.E178G
c.533A>G
Surrounding Variants
2 papers
NM_000277.3
p.E178V
c.533A>T
17 papers
NM_000277.3
p.E178K
c.532G>A
1 paper
NM_000277.3
p.E178D
c.534A>C
9 papers
NM_000277.3
p.Y179H
c.535T>C
5 papers
NM_000277.3
p.Y179N
c.535T>A
3 papers
NM_000277.3
p.V177A
c.530T>C
2 papers
NM_000277.3
p.Y179F
c.536A>T
21 papers
NM_000277.3
p.V177L
c.529G>T
23 papers
NM_000277.3
p.V177L
c.529G>C
21 papers
NM_000277.3
p.V177M
c.529G>A
1 paper
NM_000277.3
p.R176delFs
c.528delT
1 paper
NM_000277.3
p.M180V
c.538A>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."