Varaico: Literature-Extracted Genetic Variants

Gene:TPH2
Variant:p.K388_H389Splc

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.K388_H389Splc
c.1164+8736T>A
Surrounding Variants
1 paper
NM_173353.4
p.K388_H389Splc
c.1165-24C>T
1 paper
NM_173353.4
p.C396R
c.1186T>C
1 paper
NM_173353.4
p.D401E
c.1203C>A
1 paper
NM_173353.4
p.D401E
c.1203C>G
1 paper
NM_173353.4
p.P402P
c.1206A>G
1 paper
NM_173353.4
p.T404K
c.1211C>A
1 paper
NM_173353.4
p.C406W
c.1218C>G
1 paper
NM_173353.4
p.C406C
c.1218C>T
1 paper
NM_173353.4
p.C410C
c.1230C>T
1 paper
NM_173353.4
p.I412I
c.1236C>T
1 paper
NM_173353.4
p.F415L
c.1245C>A
1 paper
NM_173353.4
p.E430G
c.1289A>G
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