Varaico: Literature-Extracted Genetic Variants

Gene:TPH2
Variant:p.E363K

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.E363K
c.1087G>A
Surrounding Variants
1 paper
NM_173353.4
p.A375V
c.1124C>T
8 papers
NM_173353.4
p.A375A
c.1125A>T
1 paper
NM_173353.4
p.A378T
c.1132G>A
1 paper
NM_173353.4
p.T356_C357Splc
c.1069-40C>A
1 paper
NM_173353.4
p.T356_C357Splc
c.1069-40C>T
2 papers
NM_173353.4
p.S383F
c.1148C>T
1 paper
NM_173353.4
p.K388_H389Splc
c.1164+104A>T
1 paper
NM_173353.4
p.K388_H389Splc
c.1165-217C>T
1 paper
NM_173353.4
p.K388_H389Splc
c.1164+8736T>A
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
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."