Varaico: Literature-Extracted Genetic Variants

Gene:TPH2
Variant:p.R433Splc

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.R433Splc
c.1298+79C>T
Surrounding Variants
1 paper
NM_173353.4
p.A436E
c.1307C>A
1 paper
NM_173353.4
p.I439_T440ins6
c.1315_1319ins18
1 paper
NM_173353.4
p.R441G
c.1321C>G
57 papers
NM_173353.4
p.R441H
c.1322G>A
1 paper
NM_173353.4
p.R433G
c.1297A>G
2 papers
NM_173353.4
p.M432I
c.1296G>A
2 papers
NM_173353.4
p.M432I
c.1296G>C
2 papers
NM_173353.4
p.M432I
c.1296G>T
1 paper
NM_173353.4
p.E430G
c.1289A>G
2 papers
NM_173353.4
p.P449R
c.1346C>G
1 paper
NM_173353.4
p.P449P
c.1347C>A
1 paper
NM_173353.4
p.Q452K
c.1354C>A
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