Varaico: Literature-Extracted Genetic Variants

Gene:OXTR
Variant:p.D100E

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.D100E
c.300C>G
Surrounding Variants
1 paper
NM_000916.4
p.D100E
c.300C>A
2 papers
NM_000916.4
p.D100A
c.299A>C
1 paper
NM_000916.4
p.T102N
c.305C>A
1 paper
NM_000916.4
p.L98L
c.292C>T
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.Y106H
c.316T>C
2 papers
NM_000916.4
p.P95L
c.284C>T
1 paper
NM_000916.4
p.Y106*
c.318C>A
1 paper
NM_000916.4
p.G107A
c.320G>C
1 paper
NM_000916.4
p.V93G
c.278T>G
6 papers
NM_000916.4
p.P108A
c.322C>G
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