Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.S391fs

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
1 paper
NM_000277.3
p.S391fs
c.1171_1172fs
Surrounding Variants
2 papers
NM_000277.3
p.S391G
c.1171A>G
5 papers
NM_000277.3
p.S391I
c.1172G>T
1 paper
NM_000277.3
p.E390D
c.1170G>T
6 papers
NM_000277.3
p.S391T
c.1172G>C
1 paper
NM_000277.3
p.S391delFs
c.1171_1172delCT
164 papers
NM_000277.3
p.E390G
c.1169A>G
37 papers
NM_000277.3
p.F392I
c.1174T>A
2 papers
NM_000277.3
p.E390K
c.1168G>A
1 paper
NM_000277.3
p.E390fs
c.1168_1169fs
1 paper
NM_000277.3
p.Y387_A389delFs
c.1160_1167del8
3 papers
NM_000277.3
p.F392S
c.1175T>C
1 paper
NM_000277.3
p.A389G
c.1166C>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."