Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.R252P

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.R252P
c.755G>C
Surrounding Variants
2 papers
NM_000277.3
p.R252L
c.755G>T
81 papers
NM_000277.3
p.R252Q
c.755G>A
1 paper
NM_000277.3
p.R252R
c.756G>A
1 paper
NM_000277.3
p.R252fs
c.754_755fs
235 papers
NM_000277.3
p.R252W
c.754C>T
16 papers
NM_000277.3
p.R252G
c.754C>G
1 paper
NM_000277.3
p.S251delFs
c.753delA
1 paper
NM_000277.3
p.D253N
c.757G>A
2 papers
NM_000277.3
p.S251F
c.752C>T
2 papers
NM_000277.3
p.S251A
c.751T>G
1 paper
NM_000277.3
p.R241_S250delFs
c.722_750del29
1 paper
NM_000277.3
p.F254L
c.760T>C
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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."