Varaico: Literature-Extracted Genetic Variants

Gene:TPH2
Variant:p.R167K

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.R167K
c.500G>A
Surrounding Variants
1 paper
NM_173353.4
p.M170L
c.508A>C
1 paper
NM_173353.4
p.M170L
c.508A>T
1 paper
NM_173353.4
p.S173S
c.519T>C
16 papers
NM_173353.4
p.I158N
c.473T>A
1 paper
NM_173353.4
p.R156Q
c.467G>A
1 paper
NM_173353.4
p.H179Y
c.535C>T
1 paper
NM_173353.4
p.P180insFs
c.538_539ins7
1 paper
NM_173353.4
p.P180_G181Splc
c.540+74C>G
1 paper
NM_173353.4
p.E147ins2
c.439_440ins6
3 papers
NM_173353.4
p.E146V
c.437A>T
1 paper
NM_173353.4
p.E146K
c.436G>A
1 paper
NM_173353.4
p.E146_E147insGK
c.436_440ins6
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