Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.T323I

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
3 papers
NM_000277.3
p.T323I
c.968C>T
Surrounding Variants
1 paper
NM_000277.3
p.T323insFs
c.968_969insA
2 papers
NM_000277.3
p.T323T
c.969A>G
1 paper
NM_000277.3
p.T323fs
c.967_968fs
4 papers
NM_000277.3
p.T323_I324Splc
c.969+1G>T
10 papers
NM_000277.3
p.T323_I324Splc
c.969+1G>A
1 paper
NM_000277.3
p.T323delFs
c.968_969delTG
11 papers
NM_000277.3
p.T323del1
c.967_969delTGT
1 paper
NM_000277.3
p.T323_I324Splc
c.969+2T>G
1 paper
NM_000277.3
p.T323_I324Splc
c.969+2T>C
1 paper
NM_000277.3
p.T323_I324Splc
c.969+2T>A
1 paper
NM_000277.3
p.A322V
c.965C>T
27 papers
NM_000277.3
p.A322G
c.965C>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."