Varaico: Literature-Extracted Genetic Variants

Gene:HTR2C
Variant:p.E197K

HTR2C

293 papers

RefSeq Summary

This gene encodes a seven-transmembrane G-protein-coupled receptor. The encoded protein responds to signaling through the neurotransmitter serotonin. The mRNA of this gene is subject to multiple RNA e...

Pfam Domains

7tm_1aa 70–368UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

5-hydroxytryptamine receptor 2C

HGNC Previous Symbol

HTR1C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000868.4
p.E197K
c.589G>A
Surrounding Variants
1 paper
NM_000868.4
p.E197D
c.591A>C
1 paper
NM_000868.4
p.E197D
c.591A>T
1 paper
NM_000868.4
p.T205T
c.615G>A
1 paper
NM_000868.4
p.T206M
c.617C>T
3 papers
NM_000868.4
p.V208M
c.622G>A
1 paper
NM_000868.4
p.S186P
c.556T>C
1 paper
NM_000868.4
p.L209H
c.626T>A
2 papers
NM_000868.4
p.N213T
c.638A>C
1 paper
NM_000868.4
p.V215I
c.643G>A
1 paper
NM_000868.4
p.F220L
c.660C>G
1 paper
NM_000868.4
p.T228M
c.683C>T
1 paper
NM_000868.4
p.V240I
c.718G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."