Varaico: Literature-Extracted Genetic Variants

LEPR

1,137 papers

RefSeq Summary

The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor ...

Pfam Domains

ObR_Igaa 126–233UCSCObesity receptor immunoglobulin like domain

fn3aa 238–326UCSCFibronectin type III domain

Lep_receptor_Igaa 329–427UCSCIg-like C2-type domain

ObR_Igaa 431–533UCSCObesity receptor immunoglobulin like domain

Gene Aliases

HGNC Name

leptin receptor

HGNC Alias Symbols

OBR; CD295; LEP-R; OB-R

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002303.6

p.D104V

c.311A>T

Surrounding Variants

1 paper

NM_002303.6

p.D104D

c.312C>T

1 paper

NM_002303.6

p.D104_I106del3

c.310_317del9

2 papers

NM_002303.6

p.A103T

c.307G>A

1 paper

NM_002303.6

p.C102F

c.305G>T

1 paper

NM_002303.6

p.I106T

c.317T>C

1 paper

NM_002303.6

p.C102R

c.304T>C

1 paper

NM_002303.6

p.L101fs

c.301_302fs

1 paper

NM_002303.6

p.G108V

c.323G>T

1 paper

NM_002303.6

p.S100delFs

c.299delC

248 papers

NM_002303.6

p.K109R

c.326A>G

5 papers

NM_002303.6

p.C99Y

c.296G>A

1 paper

NM_002303.6

p.K109K

c.327G>A