Varaico: Literature-Extracted Genetic Variants

Gene:TPH2
Variant:p.E26E

TPH2

354 papers

RefSeq Summary

This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormo...

Pfam Domains

Biopterin_Haa 152–482UCSCBiopterin-dependent aromatic amino acid hydroxylase

Gene Aliases

HGNC Name

tryptophan hydroxylase 2

HGNC Alias Symbols

NTPH; FLJ37295

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173353.4
p.E26E
c.78A>G
Surrounding Variants
3 papers
NM_173353.4
p.P25H
c.74C>A
1 paper
NM_173353.4
p.P25L
c.74C>T
1 paper
NM_173353.4
p.Q29R
c.86A>G
14 papers
NM_173353.4
p.L30L
c.90A>G
1 paper
NM_173353.4
p.S22L
c.65C>T
1 paper
NM_173353.4
p.G32D
c.95G>A
1 paper
NM_173353.4
p.R15R
c.43C>A
1 paper
NM_173353.4
p.A14A
c.42A>G
1 paper
NM_173353.4
p.A14G
c.41C>G
1 paper
NM_173353.4
p.W13L
c.38G>T
1 paper
NM_173353.4
p.W13insFs
c.37_38insC
2 papers
NM_173353.4
p.Y12Y
c.36C>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."