Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.I25_E26delFs

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.I25_E26delFs
c.73_77del5
Surrounding Variants
2 papers
NM_000277.3
p.D27N
c.79G>A
2 papers
NM_000277.3
p.D27G
c.80A>G
2 papers
NM_000277.3
p.D27D
c.81C>T
1 paper
NM_000277.3
p.Y24_E26delFs
c.72_76del5
1 paper
NM_000277.3
p.E26*
c.76G>T
1 paper
NM_000277.3
p.I25delFs
c.74delA
1 paper
NM_000277.3
p.E26fs
c.76_77fs
1 paper
NM_000277.3
p.I25insFs
c.73_74dupAT
1 paper
NM_000277.3
p.N28T
c.83A>C
2 papers
NM_000277.3
p.I25T
c.74T>C
1 paper
NM_000277.3
p.N28N
c.84C>T
1 paper
NM_000277.3
p.N28K
c.84C>G
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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."