Varaico: Literature-Extracted Genetic Variants

Gene:TPH2
Variant:p.C114G

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.C114G
c.340T>G
Surrounding Variants
1 paper
NM_173353.4
p.C112S
c.335G>C
1 paper
NM_173353.4
p.C112S
c.334T>A
1 paper
NM_173353.4
p.D111N
c.331G>A
1 paper
NM_173353.4
p.E121K
c.361G>A
1 paper
NM_173353.4
p.S104A
c.310T>G
1 paper
NM_173353.4
p.Q124R
c.371A>G
2 papers
NM_173353.4
p.S103N
c.308G>A
1 paper
NM_173353.4
p.R101Q
c.302G>A
1 paper
NM_173353.4
p.R100Q
c.299G>A
2 papers
NM_173353.4
p.Q129*
c.385C>T
1 paper
NM_173353.4
p.S99A
c.295T>G
1 paper
NM_173353.4
p.R97S
c.291G>C
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