Varaico: Literature-Extracted Genetic Variants

Gene:TPH2
Variant:p.Y281S

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.Y281S
c.842A>C
Surrounding Variants
2 papers
NM_173353.4
p.P277L
c.830C>T
1 paper
NM_173353.4
p.R276S
c.828G>C
1 paper
NM_173353.4
p.R276S
c.828G>T
1 paper
NM_173353.4
p.A289A
c.867A>G
1 paper
NM_173353.4
p.R270K
c.809G>A
1 paper
NM_173353.4
p.F296F
c.888C>T
10 papers
NM_173353.4
p.R303W
c.907C>T
1 paper
NM_173353.4
p.G305G
c.915C>T
1 paper
NM_173353.4
p.S306A
c.916T>G
1 paper
NM_173353.4
p.P308L
c.923C>T
1 paper
NM_173353.4
p.P312L
c.935C>T
5 papers
NM_173353.4
p.P312P
c.936A>G
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