Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.R68G

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
11 papers
NM_000277.3
p.R68G
c.202A>G
Surrounding Variants
3 papers
NM_000277.3
p.R68*
c.202A>T
1 paper
NM_000277.3
p.S67_R68insFs
c.201_202insA
1 paper
NM_000277.3
p.S67S
c.201T>G
1 paper
NM_000277.3
p.R68K
c.203G>A
8 papers
NM_000277.3
p.S67F
c.200C>T
3 papers
NM_000277.3
p.S67C
c.200C>G
1 paper
NM_000277.3
p.S67Y
c.200C>A
90 papers
NM_000277.3
p.R68S
c.204A>T
88 papers
NM_000277.3
p.R68S
c.204A>C
1 paper
NM_000277.3
p.S67A
c.199T>G
27 papers
NM_000277.3
p.S67P
c.199T>C
9 papers
NM_000277.3
p.P69S
c.205C>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."