Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.V118Splc

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.V118Splc
c.352+1G>A
Surrounding Variants
1 paper
NM_000277.3
p.V118L
c.352G>C
2 papers
NM_000277.3
p.T117delFs
c.351delT
1 paper
NM_000277.3
p.K115_T117del3
c.343_350del9
1 paper
NM_000277.3
p.V118Splc
c.352+3A>T
4 papers
NM_000277.3
p.T117I
c.350C>T
1 paper
NM_001354304.2
p.V118Splc
c.352+5G>T
1 paper
NM_000277.3
p.D116delFs
c.346_347delTC
7 papers
NM_000277.3
p.K115_D116delFs
c.344_347del4
2 papers
NM_000277.3
p.D116G
c.347A>G
1 paper
NM_000277.3
p.K115delFs
c.344delT
1 paper
NM_000277.3
p.K113_K115del3
c.337_344del9
20 papers
NM_000277.3
p.K115N
c.345A>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."