Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.T63P

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
9 papers
NM_000277.3
p.T63P
c.187A>C
Surrounding Variants
1 paper
NM_000277.3
p.T63S
c.187A>T
1 paper
NM_000277.3
p.L62_T63insFs
c.186_187ins4
1 paper
NM_000277.3
p.L62P
c.185T>C
3 papers
NM_000277.3
p.L62delFs
c.184delG
1 paper
NM_000277.3
p.L62fs
c.184_185fs
1 paper
NM_000277.3
p.H64Y
c.190C>T
2 papers
NM_000277.3
p.L62V
c.184C>G
1 paper
NM_000277.3
p.T63ins0
c.187_189dupACC
11 papers
NM_000277.3
p.H64N
c.190C>A
1 paper
NM_000277.3
p.T63_H64delins
c.187_190delinsCCCA
4 papers
NM_000277.3
p.N61K
c.183C>G
5 papers
NM_000277.3
p.N61K
c.183C>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."