Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.I94S

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
7 papers
NM_000277.3
p.I94S
c.281T>G
Surrounding Variants
2 papers
NM_000277.3
p.I94I
c.282C>T
1 paper
NM_000277.3
p.I94I
c.282C>A
1 paper
NM_000277.3
p.I94fs
c.280_281fs
6 papers
NM_000277.3
p.I94V
c.280A>G
1 paper
NM_000277.3
p.I94insFs
c.280_281insT
11 papers
NM_000277.3
p.I95F
c.283A>T
1 paper
NM_000277.3
p.I95T
c.284T>C
1 paper
NM_000277.3
p.I94_I95delFs
c.280_283del4
4 papers
NM_000277.3
p.N93I
c.278A>T
3 papers
NM_000277.3
p.I95I
c.285C>T
1 paper
NM_000277.3
p.N93D
c.277A>G
1 paper
NM_000277.3
p.N93_I94insT
c.277_281ins3
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."