Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.V245A

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
78 papers
NM_000277.3
p.V245A
c.734T>C
Surrounding Variants
12 papers
NM_000277.3
p.V245E
c.734T>A
6 papers
NM_000277.3
p.V245L
c.733G>T
7 papers
NM_000277.3
p.V245L
c.733G>C
29 papers
NM_000277.3
p.V245V
c.735G>A
9 papers
NM_000277.3
p.V245M
c.733G>A
1 paper
NM_000277.3
p.A246fs
c.736_737fs
1 paper
NM_000277.3
p.A246T
c.736G>A
28 papers
NM_000277.3
p.P244L
c.731C>T
7 papers
NM_000277.3
p.A246V
c.737C>T
5 papers
NM_000277.3
p.A246D
c.737C>A
2 papers
NM_000277.3
p.A246delFs
c.737delG
4 papers
NM_000277.3
p.P244S
c.730C>T
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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."