Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.M276L

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.M276L
c.826A>T
Surrounding Variants
1 paper
NM_000277.3
p.M276fs
c.826_827fs
9 papers
NM_000277.3
p.M276V
c.826A>G
1 paper
NM_000277.3
p.M276L
c.826A>C
10 papers
NM_000277.3
p.M276R
c.827T>G
4 papers
NM_000277.3
p.M276T
c.827T>C
22 papers
NM_000277.3
p.M276K
c.827T>A
2 papers
NM_000277.3
p.M276delFs
c.826delT
1 paper
NM_000277.3
p.M276I
c.828G>T
1 paper
NM_000277.3
p.M276I
c.828G>C
1 paper
NM_000277.3
p.M276I
c.828G>A
12 papers
NM_000277.3
p.P275L
c.824C>T
15 papers
NM_000277.3
p.P275R
c.824C>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."