Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E66_P69delFs

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
2 papers
NM_000277.3
p.E66_P69delFs
c.198_205del8
Surrounding Variants
1 paper
NM_000277.3
p.P69L
c.206C>T
1 paper
NM_000277.3
p.P69R
c.206C>G
4 papers
NM_000277.3
p.P69insFs
c.206dupC
1 paper
NM_000277.3
p.P69fs
c.205_206fs
9 papers
NM_000277.3
p.P69S
c.205C>T
3 papers
NM_000277.3
p.P69T
c.205C>A
1 paper
NM_000277.3
p.E66_R68delFs
c.197_204del8
12 papers
NM_000277.3
p.S70P
c.208T>C
1 paper
NM_000277.3
p.S70fs
c.208_209fs
90 papers
NM_000277.3
p.R68S
c.204A>T
88 papers
NM_000277.3
p.R68S
c.204A>C
1 paper
NM_000277.3
p.R68K
c.203G>A
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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."