Varaico: Literature-Extracted Genetic Variants

Gene:HTR2A
Variant:p.F125L

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.F125L
c.375C>A
Surrounding Variants
1 paper
NM_000621.5
p.F125L
c.375C>G
1 paper
NM_000621.5
p.F125L
c.373T>C
1 paper
NM_000621.5
p.P129S
c.385C>T
1 paper
NM_000621.5
p.V130L
c.388G>C
1 paper
NM_000621.5
p.V130E
c.389T>A
1 paper
NM_000621.5
p.I118T
c.353T>C
1 paper
NM_000621.5
p.L116F
c.346C>T
1 paper
NM_000621.5
p.G138R
c.412G>C
1 paper
NM_000621.5
p.T109A
c.325A>G
1 paper
NM_000621.5
p.N107I
c.320A>T
1 paper
NM_000621.5
p.L105L
c.315G>A
2 papers
NM_000621.5
p.S100A
c.298T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."