Varaico: Literature-Extracted Genetic Variants

Gene:TPH2
Variant:p.C250Y

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.C250Y
c.749G>A
Surrounding Variants
1 paper
NM_173353.4
p.Q259*
c.775C>T
1 paper
NM_173353.4
p.E261E
c.783A>G
1 paper
NM_173353.4
p.R237R
c.711A>G
1 paper
NM_173353.4
p.R237*
c.709C>T
1 paper
NM_173353.4
p.S264T
c.790T>A
1 paper
NM_173353.4
p.A235T
c.703G>A
69 papers
NM_173353.4
p.A235S
c.703G>T
1 paper
NM_173353.4
p.K268K
c.804A>G
4 papers
NM_173353.4
p.R225Q
c.674G>A
1 paper
NM_173353.4
p.T217_K218ins3
c.651_652ins9
1 paper
NM_173353.4
p.Y212Y
c.636T>C
32 papers
NM_173353.4
p.P206S
c.616C>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."