Varaico: Literature-Extracted Genetic Variants

Gene:HTR2A
Variant:p.E6V

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
2 papers
NM_000621.5
p.E6V
c.17A>T
Surrounding Variants
2 papers
NM_000621.5
p.E6K
c.16G>A
1 paper
NM_000621.5
p.L4F
c.10C>T
1 paper
NM_000621.5
p.I3I
c.9T>C
1 paper
NM_000621.5
p.D2N
c.4G>A
1 paper
NM_000621.5
p.L11L
c.33G>A
1 paper
NM_000621.5
p.S12N
c.35G>A
1 paper
NM_000621.5
p.S12S
c.36C>T
1 paper
NM_000621.5
p.T14P
c.40A>C
1 paper
NM_000621.5
p.T15T
c.45G>A
1 paper
NM_000621.5
p.S17F
c.50C>T
1 paper
NM_000621.5
p.S17S
c.51C>T
1 paper
NM_000621.5
p.M19I
c.57G>T
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