Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.K274E

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
16 papers
NM_000277.3
p.K274E
c.820A>G
Surrounding Variants
1 paper
NM_000277.3
p.K274delFs
c.820delT
21 papers
NM_000277.3
p.S273F
c.818C>T
1 paper
NM_000277.3
p.S273P
c.817T>C
9 papers
NM_000277.3
p.P275S
c.823C>T
5 papers
NM_000277.3
p.P275A
c.823C>G
1 paper
NM_000277.3
p.P275T
c.823C>A
12 papers
NM_000277.3
p.P275L
c.824C>T
15 papers
NM_000277.3
p.P275R
c.824C>G
2 papers
NM_000277.3
p.G272E
c.815G>A
106 papers
NM_000277.3
p.G272*
c.814G>T
1 paper
NM_000277.3
p.M276fs
c.826_827fs
1 paper
NM_000277.3
p.M276L
c.826A>T
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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."