Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.K184_T186delFs

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.K184_T186delFs
c.552_556del5
Surrounding Variants
4 papers
NM_000277.3
p.T186I
c.557C>T
1 paper
NM_000277.3
p.T186K
c.557C>A
1 paper
NM_000277.3
p.T186A
c.556A>G
8 papers
NM_000277.3
p.W187R
c.559T>C
8 papers
NM_000277.3
p.W187R
c.559T>A
1 paper
NM_000277.3
p.T186delFs
c.558delT
3 papers
NM_000277.3
p.W187fs
c.559_560fs
28 papers
NM_000277.3
p.W187*
c.560G>A
4 papers
NM_000277.3
p.T186_W187delFs
c.558_559delAT
1 paper
NM_000277.3
p.K185I
c.554A>T
5 papers
NM_000277.3
p.W187C
c.561G>T
4 papers
NM_000277.3
p.W187C
c.561G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."