Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E228D

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.E228D
c.684A>T
Surrounding Variants
2 papers
NM_000277.3
p.E228D
c.684A>C
1 paper
NM_000277.3
p.D229fs
c.685_686fs
1 paper
NM_000277.3
p.E228G
c.683A>G
4 papers
NM_000277.3
p.E228*
c.682G>T
2 papers
NM_000277.3
p.E228K
c.682G>A
3 papers
NM_000277.3
p.D229G
c.686A>G
1 paper
NM_000277.3
p.D229insFs
c.686_687insA
1 paper
NM_000277.3
p.L227P
c.680T>C
3 papers
NM_000277.3
p.L227Q
c.680T>A
99 papers
NM_000277.3
p.V230I
c.688G>A
14 papers
NM_000277.3
p.V230A
c.689T>C
3 papers
NM_000277.3
p.L227V
c.679C>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."