Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.T380R

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
1 paper
NM_000277.3
p.T380R
c.1139C>G
Surrounding Variants
98 papers
NM_000277.3
p.T380M
c.1139C>T
1 paper
NM_000277.3
p.T380K
c.1139C>A
1 paper
NM_000277.3
p.T380delFs
c.1138delT
1 paper
NM_000277.3
p.E381*
c.1141G>T
4 papers
NM_000277.3
p.V379A
c.1136T>C
2 papers
NM_000277.3
p.V379D
c.1136T>A
1 paper
NM_000277.3
p.E381A
c.1142A>C
1 paper
NM_000277.3
p.V379I
c.1135G>A
1 paper
NM_000277.3
p.F382V
c.1144T>G
12 papers
NM_000277.3
p.F382L
c.1144T>C
5 papers
NM_000277.3
p.F382I
c.1144T>A
1 paper
NM_000277.3
p.T378I
c.1133C>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."