Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.V60I

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.V60I
c.178G>A
Surrounding Variants
1 paper
NM_000277.3
p.V60L
c.178G>T
2 papers
NM_000277.3
p.V60L
c.178G>C
1 paper
NM_000277.3
p.D59V
c.176A>T
1 paper
NM_000277.3
p.N58_D59insFs
c.174_175dupTG
6 papers
NM_000277.3
p.D59Y
c.175G>T
1 paper
NM_000277.3
p.D59N
c.175G>A
2 papers
NM_000277.3
p.N61D
c.181A>G
1 paper
NM_000277.3
p.V60insFs
c.179_180dupTA
2 papers
NM_000277.3
p.N61S
c.182A>G
4 papers
NM_000277.3
p.N61K
c.183C>G
5 papers
NM_000277.3
p.N61K
c.183C>A
1 paper
NM_000277.3
p.N58T
c.173A>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."