Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.A202_N207delFs

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.A202_N207delFs
c.605_621del17
Surrounding Variants
1 paper
NM_000277.3
p.N207insFs
c.619dupA
1 paper
NM_000277.3
p.I209fs
c.625_626fs
1 paper
NM_000277.3
p.I209insFs
c.625_626insG
1 paper
NM_000277.3
p.I209insFs
c.625_626insC
5 papers
NM_000277.3
p.N207S
c.620A>G
8 papers
NM_000277.3
p.N207D
c.619A>G
2 papers
NM_000277.3
p.I209_F210insFs
c.627_628insTG
1 paper
NM_000277.3
p.F210L
c.628T>C
15 papers
NM_000277.3
p.Y206*
c.618C>G
14 papers
NM_000277.3
p.Y206*
c.618C>A
2 papers
NM_000277.3
p.Y198_E205del8
c.592_614del24
10 papers
NM_000277.3
p.Y206C
c.617A>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."