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

Selected Variant

1 paper

NM_130770.3

p.E129A

c.386A>C

Surrounding Variants

2 papers

NM_130770.3

p.V128M

c.382G>A

1 paper

NM_130770.3

p.W121C

c.363G>C

1 paper

NM_130770.3

p.W121C

c.363G>T

1 paper

NM_130770.3

p.A117D

c.350C>A

1 paper

NM_130770.3

p.K105*

c.313A>T

1 paper

NM_130770.3

p.W102*

c.306G>A

1 paper

NM_130770.3

p.N101K

c.303T>A

1 paper

NM_130770.3

p.N101K

c.303T>G

1 paper

NM_130770.3

p.P98P

c.294T>A

1 paper

NM_130770.3

p.Q135Q

c.405G>A

1 paper

NM_130770.3

p.A142T

c.424G>A

1 paper

NM_130770.3

p.Y143F

c.428A>T