Varaico: Literature-Extracted Genetic Variants

Gene:HTR2C
Variant:p.V438I

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
1 paper
NM_000868.4
p.V438I
c.1312G>A
Surrounding Variants
1 paper
NM_000868.4
p.P444A
c.1330C>G
1 paper
NM_000868.4
p.V445A
c.1334T>C
1 paper
NM_000868.4
p.N430_E435del6
c.1288_1304del18
1 paper
NM_000868.4
p.E453K
c.1357G>A
1 paper
NM_000868.4
p.E421_P422insFs
c.1263_1264insC
1 paper
NM_000868.4
p.E421fs
c.1261_1262fs
5 papers
NM_000868.4
p.T419A
c.1255A>G
1 paper
NM_000868.4
p.S457R
c.1371T>G
2 papers
NM_000868.4
p.S407fs
c.1219_1220fs
1 paper
NM_000868.4
p.A405G
c.1214C>G
1 paper
NM_000868.4
p.A405V
c.1214C>T
1 paper
NM_000868.4
p.V401I
c.1201G>A
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