Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.V118G

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.V118G
c.353T>G
Surrounding Variants
1 paper
NM_000277.3
p.V118V
c.354G>T
1 paper
NM_000277.3
p.V118Splc
c.353-1G>C
9 papers
NM_000277.3
p.V118Splc
c.353-1G>A
23 papers
NM_000277.3
p.P119S
c.355C>T
3 papers
NM_000277.3
p.V118Splc
c.353-2A>T
2 papers
NM_000277.3
p.V118Splc
c.353-2A>G
1 paper
NM_000277.3
p.P119L
c.356C>T
1 paper
NM_000277.3
p.P119R
c.356C>G
1 paper
NM_000277.3
p.V118Splc
c.353-3C>G
3 papers
NM_000277.3
p.P119P
c.357C>G
1 paper
NM_000277.3
p.V118Splc
c.353-6T>C
3 papers
NM_000277.3
p.W120*
c.359G>A
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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."