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

1 paper

NM_001256613.2

p.Q22R

c.65A>G

Surrounding Variants

16 papers

NM_001256613.2

p.V26I

c.76G>A

1 paper

NM_001256613.2

p.G39G

c.117G>C

1 paper

NM_001256613.2

p.A71T

c.211G>A

1 paper

NM_001256613.2

p.W102*

c.306G>A

1 paper

NM_001256613.2

p.Y143F

c.428A>T

2 papers

NM_001256613.2

p.S182insFs

c.545_546ins8

1 paper

NM_001256613.2

p.F183F

c.549C>T

1 paper

NM_001256613.2

p.L184V

c.550C>G

1 paper

NM_001256613.2

p.T186A

c.556A>G

1 paper

NM_001256613.2

p.T186fs

c.556_557fs

1 paper

NM_001256613.2

p.E197insFs

c.590_591ins8

2 papers

NM_001256613.2

p.I208insFs

c.623_624ins8