Varaico: Literature-Extracted Genetic Variants

HTR3E

58 papers

RefSeq Summary

This locus encodes a 5-hydroxytryptamine (serotonin) receptor subunit. The encoded protein, subunit E, may play a role in neurotransmission in myenteric neurons. Genes encoding subunits C, D and E for...

Pfam Domains

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

Neur_chan_membaa 254–421UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

5-hydroxytryptamine receptor 3E

HGNC Previous Names

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

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001256613.2

p.L299F

c.897G>T

Surrounding Variants

2 papers

NM_001256613.2

p.L299F

c.897G>C

1 paper

NM_001256613.2

p.N290N

c.870C>T

2 papers

NM_001256613.2

p.T284T

c.852G>T

1 paper

NM_001256613.2

p.I264I

c.792C>T

1 paper

NM_001256613.2

p.L255I

c.763C>A

1 paper

NM_001256613.2

p.S248S

c.744T>C

1 paper

NM_001256613.2

p.S248N

c.743G>A

1 paper

NM_001256613.2

p.R245H

c.734G>A

1 paper

NM_001256613.2

p.V310L

c.928G>C

2 papers

NM_001256613.2

p.V310A

c.929T>C

2 papers

NM_001256613.2

p.L314L

c.942G>T

1 paper

NM_001256613.2

p.L318Q

c.953T>A