Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.T236Splc

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
4 papers
NM_000277.3
p.T236Splc
c.707-7A>T
Surrounding Variants
2 papers
NM_000277.3
p.T236Splc
c.707-1G>T
2 papers
NM_000277.3
p.T236Splc
c.707-1G>C
12 papers
NM_000277.3
p.T236Splc
c.707-1G>A
1 paper
NM_000277.3
p.T236P
c.706A>C
1 paper
NM_000277.3
p.T236N
c.707C>A
3 papers
NM_000277.3
p.C237R
c.709T>C
1 paper
NM_000277.3
p.C237S
c.709T>A
1 paper
NM_000277.3
p.C237F
c.710G>T
1 paper
NM_000277.3
p.C237S
c.710G>C
1 paper
NM_000277.3
p.C237W
c.711C>G
3 papers
NM_000277.3
p.T238A
c.712A>G
8 papers
NM_000277.3
p.T238P
c.712A>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."