Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.R158G

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.R158G
c.472C>G
Surrounding Variants
55 papers
NM_000277.3
p.R158W
c.472C>T
2 papers
NM_000277.3
p.R158L
c.473G>T
2 papers
NM_000277.3
p.R158P
c.473G>C
249 papers
NM_000277.3
p.R158Q
c.473G>A
2 papers
NM_000277.3
p.R158delFs
c.472delG
4 papers
NM_000277.3
p.R157S
c.471A>T
6 papers
NM_000277.3
p.R157S
c.471A>C
1 paper
NM_000277.3
p.R157delins
c.470_471delinsAC
2 papers
NM_000277.3
p.R157I
c.470G>T
13 papers
NM_000277.3
p.R157K
c.470G>A
2 papers
NM_000277.3
p.K159*
c.475A>T
1 paper
NM_000277.3
p.A156insFs
c.466_467insGG
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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."