Varaico: Literature-Extracted Genetic Variants

Gene:TPH2
Variant:p.A57T

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.A57T
c.169G>A
Surrounding Variants
5 papers
NM_173353.4
p.R55C
c.163C>T
1 paper
NM_173353.4
p.K54I
c.161A>T
1 paper
NM_173353.4
p.T59T
c.177C>G
1 paper
NM_173353.4
p.E60G
c.179A>G
1 paper
NM_173353.4
p.S53R
c.159C>A
1 paper
NM_173353.4
p.S53R
c.159C>G
1 paper
NM_173353.4
p.S53R
c.157A>C
1 paper
NM_173353.4
p.G62S
c.184G>A
1 paper
NM_173353.4
p.G51E
c.152G>A
1 paper
NM_173353.4
p.N49K
c.147C>A
1 paper
NM_173353.4
p.N49K
c.147C>G
1 paper
NM_173353.4
p.T64I
c.191C>T
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