Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.N207D

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
8 papers
NM_000277.3
p.N207D
c.619A>G
Surrounding Variants
15 papers
NM_000277.3
p.Y206*
c.618C>G
14 papers
NM_000277.3
p.Y206*
c.618C>A
2 papers
NM_000277.3
p.Y198_E205del8
c.592_614del24
5 papers
NM_000277.3
p.N207S
c.620A>G
1 paper
NM_000277.3
p.N207insFs
c.619dupA
10 papers
NM_000277.3
p.Y206C
c.617A>G
2 papers
NM_000277.3
p.Y206_N207insC
c.616_620ins3
3 papers
NM_000277.3
p.Y206D
c.616T>G
2 papers
NM_000277.3
p.E205D
c.615G>T
3 papers
NM_000277.3
p.E205D
c.615G>C
7 papers
NM_000277.3
p.Y198_E205delFs
c.593_614del22
1 paper
NM_000277.3
p.A202_N207delFs
c.605_621del17
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."