Varaico: Literature-Extracted Genetic Variants

Gene:OXTR
Variant:p.A240del1

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.A240del1
c.718_719delCGC
Surrounding Variants
1 paper
NM_000916.4
p.E242*
c.724G>T
1 paper
NM_000916.4
p.E242Q
c.724G>C
1 paper
NM_000916.4
p.E242K
c.724G>A
1 paper
NM_000916.4
p.A243T
c.727G>A
1 paper
NM_000916.4
p.P244A
c.730C>G
6 papers
NM_000916.4
p.A238T
c.712G>A
1 paper
NM_000916.4
p.A248P
c.742G>C
1 paper
NM_000916.4
p.A248V
c.743C>T
1 paper
NM_000916.4
p.A240_A249del0
c.719_745del27
3 papers
NM_000916.4
p.G252A
c.755G>C
1 paper
NM_000916.4
p.G252E
c.755G>A
5 papers
NM_000916.4
p.N230N
c.690C>T
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