Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.S359*

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
8 papers
NM_000277.3
p.S359*
c.1076C>A
Surrounding Variants
5 papers
NM_000277.3
p.S359L
c.1076C>T
8 papers
NM_000277.3
p.S359*
c.1076C>G
1 paper
NM_000277.3
p.S359A
c.1075T>G
1 paper
NM_000277.3
p.S359P
c.1075T>C
1 paper
NM_000277.3
p.L358delFs
c.1074delT
1 paper
NM_000277.3
p.S359fs
c.1075_1076fs
2 papers
NM_000277.3
p.E360*
c.1078G>T
5 papers
NM_000277.3
p.L358F
c.1074A>T
5 papers
NM_000277.3
p.L358F
c.1074A>C
2 papers
NM_000277.3
p.L358*
c.1073T>G
2 papers
NM_000277.3
p.L358*
c.1073T>A
4 papers
NM_000277.3
p.C357*
c.1071C>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."