Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.K14N

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.K14N
c.42A>T
Surrounding Variants
1 paper
NM_000277.3
p.K14N
c.42A>C
1 paper
NM_000277.3
p.L15V
c.43C>G
1 paper
NM_000277.3
p.L15insFs
c.43_44insAG
1 paper
NM_000277.3
p.L15fs
c.43_44fs
1 paper
NM_000277.3
p.R13_K14delFs
c.39_40delTC
1 paper
NM_000277.3
p.L15insFs
c.44_45insG
1 paper
NM_000277.3
p.K14Q
c.40A>C
1 paper
NM_000277.3
p.R13S
c.39G>T
1 paper
NM_000277.3
p.L15L
c.45C>A
5 papers
NM_000277.3
p.S16P
c.46T>C
1 paper
NM_000277.3
p.S16fs
c.46_47fs
2 papers
NM_000277.3
p.R13fs
c.37_38fs
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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."