Varaico: Literature-Extracted Genetic Variants

Gene:OXTR
Variant:p.L114L

OXTR

163 papers

RefSeq Summary

The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calc...

Pfam Domains

7tm_1aa 56–329UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

oxytocin receptor

HGNC Alias Symbol

OTR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000916.4
p.L114L
c.340C>T
Surrounding Variants
1 paper
NM_000916.4
p.R113G
c.337C>G
1 paper
NM_000916.4
p.L118L
c.352T>C
1 paper
NM_000916.4
p.Q119E
c.355C>G
1 paper
NM_000916.4
p.Q119K
c.355C>A
6 papers
NM_000916.4
p.P108A
c.322C>G
1 paper
NM_000916.4
p.G107A
c.320G>C
1 paper
NM_000916.4
p.Y106*
c.318C>A
1 paper
NM_000916.4
p.Y106H
c.316T>C
2 papers
NM_000916.4
p.G122R
c.364G>C
1 paper
NM_000916.4
p.R104C
c.310C>T
1 paper
NM_000916.4
p.R104S
c.310C>A
1 paper
NM_000916.4
p.T102N
c.305C>A
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