Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.V230I

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
99 papers
NM_000277.3
p.V230I
c.688G>A
Surrounding Variants
14 papers
NM_000277.3
p.V230A
c.689T>C
1 paper
NM_000277.3
p.D229insFs
c.686_687insA
1 paper
NM_000277.3
p.V230_S231insFs
c.690_691insG
3 papers
NM_000277.3
p.D229G
c.686A>G
2 papers
NM_000277.3
p.S231insFs
c.691_692insG
1 paper
NM_000277.3
p.S231A
c.691T>G
27 papers
NM_000277.3
p.S231P
c.691T>C
2 papers
NM_000277.3
p.S231fs
c.691_692fs
1 paper
NM_000277.3
p.D229fs
c.685_686fs
11 papers
NM_000277.3
p.S231F
c.692C>T
2 papers
NM_000277.3
p.E228D
c.684A>T
2 papers
NM_000277.3
p.E228D
c.684A>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."