Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.A90fs

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.A90fs
c.268_269fs
Surrounding Variants
1 paper
NM_000277.3
p.L91P
c.272T>C
3 papers
NM_000277.3
p.A90fs
c.268_269fs
6 papers
NM_000277.3
p.P89insFs
c.266_267insC
2 papers
NM_000277.3
p.P89fs
c.265_266fs
1 paper
NM_000277.3
p.P89insFs
c.266_267insG
1 paper
NM_000277.3
p.T92P
c.274A>C
18 papers
NM_000277.3
p.T92I
c.275C>T
6 papers
NM_000277.3
p.P89S
c.265C>T
3 papers
NM_000277.3
p.P89A
c.265C>G
2 papers
NM_000277.3
p.P89T
c.265C>A
1 paper
NM_000277.3
p.L88_P89insFs
c.264_265insC
1 paper
NM_000277.3
p.L88L
c.264G>C
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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."