Varaico: Literature-Extracted Genetic Variants

Gene:TPH1
Variant:p.M124L

TPH1

130 papers

RefSeq Summary

This gene encodes a member of the aromatic amino acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neur...

Pfam Domains

ACTaa 18–78UCSCACT domain
Biopterin_Haa 106–436UCSCBiopterin-dependent aromatic amino acid hydroxylase

Gene Aliases

HGNC Name

tryptophan hydroxylase 1

HGNC Previous Symbol

TPRH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004179.3
p.M124L
c.370A>C
Surrounding Variants
1 paper
NM_004179.3
p.M124L
c.370A>T
2 papers
NM_004179.3
p.M124R
c.371T>G
1 paper
NM_004179.3
p.Y125C
c.374A>G
1 paper
NM_004179.3
p.S127T
c.379T>A
1 paper
NM_004179.3
p.S127F
c.380C>T
1 paper
NM_004179.3
p.S127Y
c.380C>A
1 paper
NM_004179.3
p.E128D
c.384A>T
1 paper
NM_004179.3
p.E128D
c.384A>C
1 paper
NM_004179.3
p.L129P
c.386T>C
1 paper
NM_004179.3
p.A131G
c.392C>G
1 paper
NM_004179.3
p.D93G
c.278A>G
1 paper
NM_004179.3
p.L87L
c.261C>G
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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."