Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.G12R

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.G12R
c.34G>C
Surrounding Variants
1 paper
NM_000277.3
p.G12C
c.34G>T
2 papers
NM_000277.3
p.G12S
c.34G>A
3 papers
NM_000277.3
p.G12fs
c.34_35fs
1 paper
NM_000277.3
p.G12V
c.35G>T
1 paper
NM_000277.3
p.L11F
c.33G>T
1 paper
NM_000277.3
p.G12A
c.35G>C
1 paper
NM_000277.3
p.L11F
c.33G>C
2 papers
NM_000277.3
p.L11L
c.33G>A
1 paper
NM_000277.3
p.G12D
c.35G>A
1 paper
NM_000277.3
p.L11*
c.32T>A
1 paper
NM_000277.3
p.G12insFs
c.35dupG
4 papers
NM_000277.3
p.G12delFs
c.35delC
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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."