Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L293M

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
4 papers
NM_000277.3
p.L293M
c.877T>A
Surrounding Variants
2 papers
NM_000277.3
p.L293S
c.878T>C
1 paper
NM_000277.3
p.L293*
c.878T>A
9 papers
NM_000277.3
p.P292L
c.875C>T
3 papers
NM_000277.3
p.P292S
c.874C>T
1 paper
NM_000277.3
p.P292T
c.874C>A
1 paper
NM_000277.3
p.V291G
c.872T>G
4 papers
NM_000277.3
p.V291L
c.871G>T
4 papers
NM_000277.3
p.V291L
c.871G>C
5 papers
NM_000277.3
p.V291M
c.871G>A
2 papers
NM_000277.3
p.H290Q
c.870T>G
2 papers
NM_000277.3
p.H290Q
c.870T>A
3 papers
NM_000277.3
p.S295*
c.884C>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."