Varaico: Literature-Extracted Genetic Variants

Gene:TPH2

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
1–12 of 192 variants
69 papers
NM_173353.4
p.A235S
c.703G>T
57 papers
NM_173353.4
p.R441H
c.1322G>A
39 papers
NM_173353.4
p.E73A
c.218A>C
32 papers
NM_173353.4
p.P206S
c.616C>T
16 papers
NM_173353.4
p.I158N
c.473T>A
15 papers
NM_173353.4
p.S41Y
c.122C>A
14 papers
NM_173353.4
p.L30L
c.90A>G
10 papers
NM_173353.4
p.R303W
c.907C>T
8 papers
NM_173353.4
p.A375A
c.1125A>T
8 papers
NM_173353.4
p.A480T
c.1438G>A
7 papers
NM_173353.4
p.L36V
c.106C>G
6 papers
NM_173353.4
p.L36P
c.107T>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."