Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L255S

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
47 papers
NM_000277.3
p.L255S
c.764T>C
Surrounding Variants
1 paper
NM_000277.3
p.L255insFs
c.764_765ins4
2 papers
NM_000277.3
p.L255W
c.764T>G
16 papers
NM_000277.3
p.L255V
c.763T>G
1 paper
NM_000277.3
p.L255M
c.763T>A
1 paper
NM_000277.3
p.F254L
c.762C>G
1 paper
NM_000277.3
p.F254L
c.762C>A
2 papers
NM_000277.3
p.G256D
c.767G>A
1 paper
NM_000277.3
p.G256_G257insFs
c.768_769insA
1 paper
NM_000277.3
p.F254L
c.760T>C
1 paper
NM_000277.3
p.F254I
c.760T>A
4 papers
NM_000277.3
p.G257C
c.769G>T
1 paper
NM_000277.3
p.G257S
c.769G>A
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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."