Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.C203W

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.C203W
c.609C>G
Surrounding Variants
2 papers
NM_000277.3
p.C203*
c.609C>A
1 paper
NM_000277.3
p.S196_C203delFs
c.586_608del23
2 papers
NM_000277.3
p.C203S
c.608G>C
7 papers
NM_000277.3
p.C203Y
c.608G>A
2 papers
NM_000277.3
p.C203G
c.607T>G
2 papers
NM_000277.3
p.C203S
c.607T>A
1 paper
NM_000277.3
p.Y204F
c.611A>T
149 papers
NM_000277.3
p.Y204C
c.611A>G
17 papers
NM_000277.3
p.Y204*
c.612T>G
1 paper
NM_000277.3
p.Y204Y
c.612T>C
16 papers
NM_000277.3
p.Y204*
c.612T>A
1 paper
NM_000277.3
p.E205K
c.613G>A
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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."