Varaico: Literature-Extracted Genetic Variants

HTR3C

64 papers

RefSeq Summary

The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit C of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that f...

Pfam Domains

Neur_chan_LBDaa 43–247UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 254–398UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

5-hydroxytryptamine receptor 3C

HGNC Previous Names

5-hydroxytryptamine (serotonin) receptor 3, family member C; 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic

Papers

RefSeq ID

Protein change

DNA change

1–12 of 56 variants

14 papers

NM_130770.3

p.N163K

c.489C>A

11 papers

NM_130770.3

p.N163K

c.489C>G

5 papers

NM_130770.3

p.G405A

c.1214G>C

2 papers

NM_130770.3

p.V78A

c.233T>C

2 papers

NM_130770.3

p.T86A

c.256A>G

2 papers

NM_130770.3

p.V128M

c.382G>A

2 papers

NM_130770.3

p.P385L

c.1154C>T

1 paper

NM_130770.3

p.C14C

c.42C>T

1 paper

NM_130770.3

p.G23Splc

c.68-523C>T

1 paper

NM_130770.3

p.D36N

c.106G>A

1 paper

NM_130770.3

p.R55C

c.163C>T

1 paper

NM_130770.3

p.L76R

c.227T>G