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

5 papers

NM_130770.3

p.G405A

c.1214G>C

Surrounding Variants

1 paper

NM_130770.3

p.L388S

c.1163T>C

1 paper

NM_130770.3

p.L425M

c.1273C>A

1 paper

NM_130770.3

p.L425delins

c.1273_1274delinsAA

2 papers

NM_130770.3

p.P385L

c.1154C>T

1 paper

NM_130770.3

p.L426I

c.1276C>A

1 paper

NM_130770.3

p.G368R

c.1102G>A

1 paper

NM_130770.3

p.G368R

c.1102G>C

1 paper

NM_130770.3

p.Q366fs

c.1096_1097fs

1 paper

NM_130770.3

p.P362T

c.1084C>A

1 paper

NM_130770.3

p.L318Q

c.953T>A

1 paper

NM_130770.3

p.L314R

c.941T>G

1 paper

NM_130770.3

p.A313T

c.937G>A