Varaico: Literature-Extracted Genetic Variants

HTR3A

164 papers

RefSeq Summary

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

Pfam Domains

Neur_chan_LBDaa 34–242UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 249–469UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

5-hydroxytryptamine receptor 3A

HGNC Previous Symbol

HTR3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000869.6

p.N77K

c.231T>G

Surrounding Variants

1 paper

NM_000869.6

p.E75D

c.225G>C

1 paper

NM_000869.6

p.E75D

c.225G>T

1 paper

NM_000869.6

p.E75Q

c.223G>C

1 paper

NM_000869.6

p.Y83Y

c.249C>T

1 paper

NM_000869.6

p.I84N

c.251T>A

1 paper

NM_000869.6

p.Y86C

c.257A>G

4 papers

NM_000869.6

p.Q88_Y89Splc

c.264+7A>C

1 paper

NM_000869.6

p.I70I

c.210C>T

1 paper

NM_000869.6

p.V65V

c.195C>A

6 papers

NM_000869.6

p.V65V

c.195C>T

1 paper

NM_000869.6

p.R56fs

c.166_167fs

1 paper

NM_000869.6

p.R56delFs

c.167delG