Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.K115I

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.K115I
c.344A>T
Surrounding Variants
20 papers
NM_000277.3
p.K115N
c.345A>T
2 papers
NM_000277.3
p.K115fs
c.343_344fs
3 papers
NM_000277.3
p.K115fs
c.343_344fs
1 paper
NM_000277.3
p.K115delFs
c.344delT
1 paper
NM_000277.3
p.K113_K115del3
c.337_344del9
2 papers
NM_000277.3
p.D116G
c.347A>G
1 paper
NM_000277.3
p.D116delFs
c.346_347delTC
7 papers
NM_000277.3
p.K115_D116delFs
c.344_347del4
1 paper
NM_000277.3
p.K113insFs
c.338dupA
4 papers
NM_000277.3
p.T117I
c.350C>T
2 papers
NM_000277.3
p.K113R
c.338A>G
5 papers
NM_000277.3
p.D112insFs
c.335dupA
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