Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.K96E

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.K96E
c.286A>G
Surrounding Variants
3 papers
NM_000277.3
p.I95I
c.285C>T
43 papers
NM_000277.3
p.N93_I94del1
c.279_281delATG
1 paper
NM_000277.3
p.I95T
c.284T>C
1 paper
NM_000277.3
p.I94_I95delFs
c.280_283del4
3 papers
NM_000277.3
p.K96K
c.288G>A
11 papers
NM_000277.3
p.I95F
c.283A>T
4 papers
NM_000277.3
p.I97L
c.289A>C
1 paper
NM_000277.3
p.I97ins1
c.289_290insCTT
2 papers
NM_000277.3
p.K96_I97delFs
c.286_289del4
2 papers
NM_000277.3
p.I94I
c.282C>T
1 paper
NM_000277.3
p.I94I
c.282C>A
7 papers
NM_000277.3
p.I94S
c.281T>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."