KEGG   VARIANT: 84634v1
Entry
84634v1                      Variant                               

Name
KISS1R inactivaing mutation
Gene
KISS1R  KISS1 receptor [KO:K08374]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation L148S
ClinVar: 5755
dbSNP: rs28939719
Variation
mutation R331Ter
ClinVar: 5756
dbSNP: rs104894701
Variation
mutation Ter399R
ClinVar: 5757
dbSNP: rs104894702
Variation
mutation L102P
ClinVar: 5759
dbSNP: rs104894703
Network
nt06323  KISS1-GnRH-LH/FSH-E2 signaling
nt06361  Hypogonadotropic hypogonadism
  Element
N00871  Mutation-inactivated KISS1R to KISS1-KISS1R-PLCB-PKC signaling pathway
Reference
  Authors
Dedes I
  Title
Kisspeptins and the control of gonadotrophin secretion.
  Journal
Syst Biol Reprod Med 58:121-8 (2012)
DOI:10.3109/19396368.2011.651555
LinkDB

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