Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.I65T

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
246 papers
NM_000277.3
p.I65T
c.194T>C
Surrounding Variants
19 papers
NM_000277.3
p.I65S
c.194T>G
14 papers
NM_000277.3
p.I65N
c.194T>A
2 papers
NM_000277.3
p.I65M
c.195T>G
15 papers
NM_000277.3
p.I65V
c.193A>G
1 paper
NM_000277.3
p.E66*
c.196G>T
5 papers
NM_000277.3
p.E66K
c.196G>A
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.E66fs
c.196_197fs
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.H64Y
c.190C>T
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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."