Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E181K

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.E181K
c.541G>A
Surrounding Variants
1 paper
NM_000277.3
p.E181fs
c.541_542fs
1 paper
NM_000277.3
p.M180R
c.539T>G
3 papers
NM_000277.3
p.E182K
c.544G>A
1 paper
NM_000277.3
p.M180V
c.538A>G
4 papers
NM_000277.3
p.E182G
c.545A>G
1 paper
NM_000277.3
p.E181_E182delFs
c.541_544del4
2 papers
NM_000277.3
p.Y179F
c.536A>T
9 papers
NM_000277.3
p.Y179H
c.535T>C
5 papers
NM_000277.3
p.Y179N
c.535T>A
1 paper
NM_000277.3
p.E183Q
c.547G>C
1 paper
NM_000277.3
p.E183K
c.547G>A
7 papers
NM_000277.3
p.E183G
c.548A>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."