Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E7delFs

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.E7delFs
c.19_20delTC
Surrounding Variants
2 papers
NM_000277.3
p.N8fs
c.22_23fs
1 paper
NM_000277.3
p.E7*
c.19G>T
1 paper
NM_000277.3
p.E7K
c.19G>A
1 paper
NM_000277.3
p.N8T
c.23A>C
1 paper
NM_000277.3
p.E7_N8insFs
c.21_22insA
2 papers
NM_000277.3
p.N8Fs
c.23_24delinsTFs
1 paper
NM_000277.3
p.L6R
c.17T>G
1 paper
NM_000277.3
p.L6P
c.17T>C
4 papers
NM_000277.3
p.L6L
c.16C>T
1 paper
NM_000277.3
p.P9Fs
c.27delinsGTAAAGFs
1 paper
NM_000277.3
p.P9P
c.27A>C
1 paper
NM_000277.3
p.V5delFs
c.13delC
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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."