Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.K150E

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.K150E
c.448A>G
Surrounding Variants
2 papers
NM_000277.3
p.F149delFs
c.445_446delAA
2 papers
NM_000277.3
p.K150R
c.449A>G
1 paper
NM_000277.3
p.F149S
c.446T>C
7 papers
NM_000277.3
p.D151G
c.452A>G
3 papers
NM_000277.3
p.D151E
c.453T>G
3 papers
NM_000277.3
p.D151E
c.453T>A
3 papers
NM_000277.3
p.G148V
c.443G>T
2 papers
NM_000277.3
p.G148D
c.443G>A
4 papers
NM_000277.3
p.G148R
c.442G>C
7 papers
NM_000277.3
p.G148S
c.442G>A
2 papers
NM_000277.3
p.P152S
c.454C>T
1 paper
NM_000277.3
p.P152A
c.454C>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."