Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.R169delFs

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.R169delFs
c.506delC
Surrounding Variants
1 paper
NM_000277.3
p.R169L
c.506G>T
6 papers
NM_000277.3
p.R169P
c.506G>C
31 papers
NM_000277.3
p.R169H
c.506G>A
6 papers
NM_000277.3
p.H170D
c.508C>G
9 papers
NM_000277.3
p.R169C
c.505C>T
1 paper
NM_000277.3
p.R169G
c.505C>G
15 papers
NM_000277.3
p.R169S
c.505C>A
3 papers
NM_000277.3
p.R169fs
c.505_506fs
3 papers
NM_000277.3
p.H170R
c.509A>G
1 paper
NM_000277.3
p.H170P
c.509A>C
11 papers
NM_000277.3
p.H170Splc
c.509+1G>A
1 paper
NM_000277.3
p.Y168*
c.504C>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."