Varaico: Literature-Extracted Genetic Variants

Gene:OXTR
Variant:p.V45L

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
4 papers
NM_000916.4
p.V45L
c.133G>T
Surrounding Variants
4 papers
NM_000916.4
p.V45L
c.133G>C
1 paper
NM_000916.4
p.L46P
c.137T>C
1 paper
NM_000916.4
p.E42D
c.126G>T
1 paper
NM_000916.4
p.E42D
c.126G>C
1 paper
NM_000916.4
p.C47Y
c.140G>A
2 papers
NM_000916.4
p.E42A
c.125A>C
1 paper
NM_000916.4
p.R40C
c.118C>T
1 paper
NM_000916.4
p.R40G
c.118C>G
1 paper
NM_000916.4
p.R40S
c.118C>A
1 paper
NM_000916.4
p.L50R
c.149T>G
1 paper
NM_000916.4
p.L50P
c.149T>C
1 paper
NM_000916.4
p.L38M
c.112C>A
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