Varaico: Literature-Extracted Genetic Variants

Gene:HTR2A
Variant:p.L247V

HTR2A

550 papers

RefSeq Summary

This gene encodes one of the receptors for serotonin, a neurotransmitter with many roles. Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, ...

Pfam Domains

7tm_1aa 91–380UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

5-hydroxytryptamine receptor 2A

HGNC Previous Symbol

HTR2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000621.5
p.L247V
c.739T>G
Surrounding Variants
1 paper
NM_000621.5
p.F244L
c.732C>A
1 paper
NM_000621.5
p.S242A
c.724T>G
6 papers
NM_000621.5
p.T253T
c.759C>T
1 paper
NM_000621.5
p.Y254H
c.760T>C
2 papers
NM_000621.5
p.S239A
c.715T>G
1 paper
NM_000621.5
p.T257A
c.769A>G
1 paper
NM_000621.5
p.V235F
c.703G>T
1 paper
NM_000621.5
p.S260A
c.778T>G
1 paper
NM_000621.5
p.A230T
c.688G>A
1 paper
NM_000621.5
p.T266A
c.796A>G
1 paper
NM_000621.5
p.T266P
c.796A>C
1 paper
NM_000621.5
p.L267S
c.800T>C
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