Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.H64N

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
11 papers
NM_000277.3
p.H64N
c.190C>A
Surrounding Variants
1 paper
NM_000277.3
p.H64Y
c.190C>T
1 paper
NM_000277.3
p.T63ins0
c.187_189dupACC
1 paper
NM_000277.3
p.T63_H64delins
c.187_190delinsCCCA
1 paper
NM_000277.3
p.H64R
c.191A>G
2 papers
NM_000277.3
p.H64delFs
c.190delG
1 paper
NM_000277.3
p.H64delFs
c.191delT
1 paper
NM_000277.3
p.D59_H64delFs
c.176_191del16
1 paper
NM_000277.3
p.T63S
c.187A>T
15 papers
NM_000277.3
p.I65V
c.193A>G
9 papers
NM_000277.3
p.T63P
c.187A>C
19 papers
NM_000277.3
p.I65S
c.194T>G
246 papers
NM_000277.3
p.I65T
c.194T>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."