Varaico: Literature-Extracted Genetic Variants

Gene:TPH2
Variant:p.D473N

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
2 papers
NM_173353.4
p.D473N
c.1417G>A
Surrounding Variants
1 paper
NM_173353.4
p.L474V
c.1420T>G
1 paper
NM_173353.4
p.R471H
c.1412G>A
5 papers
NM_173353.4
p.Q468R
c.1403A>G
1 paper
NM_173353.4
p.V477V
c.1431G>A
5 papers
NM_173353.4
p.D479E
c.1437T>A
5 papers
NM_173353.4
p.D479E
c.1437T>G
8 papers
NM_173353.4
p.A480T
c.1438G>A
1 paper
NM_173353.4
p.N485S
c.1454A>G
1 paper
NM_173353.4
p.Q486K
c.1456C>A
1 paper
NM_173353.4
p.Q452K
c.1354C>A
2 papers
NM_173353.4
p.Q452*
c.1354C>T
1 paper
NM_173353.4
p.P449P
c.1347C>A
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