Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.E330K

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.E330K
c.988G>A
Surrounding Variants
1 paper
NM_000277.3
p.E330Q
c.988G>C
1 paper
NM_000277.3
p.V329delFs
c.986_987delCA
2 papers
NM_000277.3
p.V329del1
c.985_986delCAC
1 paper
NM_000277.3
p.V329A
c.986T>C
1 paper
NM_000277.3
p.W326_V329delFs
c.978_985del8
3 papers
NM_000277.3
p.E330D
c.990G>T
3 papers
NM_000277.3
p.E330D
c.990G>C
9 papers
NM_000277.3
p.F331L
c.991T>C
1 paper
NM_000277.3
p.V329L
c.985G>T
2 papers
NM_000277.3
p.F331C
c.992T>G
21 papers
NM_000277.3
p.F331S
c.992T>C
9 papers
NM_000277.3
p.F331L
c.993T>G
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."