Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.R243*

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
153 papers
NM_000277.3
p.R243*
c.727C>T
Surrounding Variants
5 papers
NM_000277.3
p.R243L
c.728G>T
1 paper
NM_000277.3
p.R243P
c.728G>C
292 papers
NM_000277.3
p.R243Q
c.728G>A
1 paper
NM_000277.3
p.L242delFs
c.724delG
1 paper
NM_000277.3
p.R241del1
c.721_722delGCG
4 papers
NM_000277.3
p.R243_P244insFs
c.729_730insTT
22 papers
NM_000277.3
p.L242F
c.724C>T
4 papers
NM_000277.3
p.P244S
c.730C>T
28 papers
NM_000277.3
p.P244L
c.731C>T
6 papers
NM_000277.3
p.R241fs
c.721_722fs
31 papers
NM_000277.3
p.R241delFs
c.722delC
13 papers
NM_000277.3
p.R241L
c.722G>T
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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."