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.T186A

c.556A>G

Surrounding Variants

1 paper

NM_130770.3

p.T179S

c.536C>G

1 paper

NM_130770.3

p.T179fs

c.535_536fs

1 paper

NM_130770.3

p.T179S

c.535A>T

1 paper

NM_130770.3

p.F178_T179delFs

c.533_537del5

1 paper

NM_130770.3

p.P170S

c.508C>T

14 papers

NM_130770.3

p.N163K

c.489C>A

11 papers

NM_130770.3

p.N163K

c.489C>G

1 paper

NM_130770.3

p.V158M

c.472G>A

1 paper

NM_130770.3

p.R149*

c.445C>T

1 paper

NM_130770.3

p.Y143F

c.428A>T

1 paper

NM_130770.3

p.A142T

c.424G>A

1 paper

NM_130770.3

p.Q135Q

c.405G>A