Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.G133insFs

LEP

798 papers

RefSeq Summary

This gene encodes a protein that is secreted by white adipocytes into the circulation and plays a major role in the regulation of energy homeostasis. Circulating leptin binds to the leptin receptor in...

Pfam Domains

Leptinaa 23–167UCSCLeptin

Gene Aliases

HGNC Name

leptin

HGNC Previous Symbols

OBS; OB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000230.3
p.G133insFs
c.398dupG
Surrounding Variants
23 papers
NM_000230.3
p.G133delFs
c.398delG
1 paper
NM_000230.3
p.L131fs
c.391_392fs
1 paper
NM_000230.3
p.L131_G132ins4
c.391_395ins12
1 paper
NM_000230.3
p.L131L
c.393G>A
2 papers
NM_000230.3
p.G132R
c.394G>A
1 paper
NM_000230.3
p.G132R
c.394G>C
2 papers
NM_000230.3
p.G132E
c.395G>A
1 paper
NM_000230.3
p.S130G
c.388A>G
2 papers
NM_000230.3
p.G133del1
c.397_398delGGT
1 paper
NM_000230.3
p.D129E
c.387C>A
1 paper
NM_000230.3
p.D129E
c.387C>G
11 papers
NM_000230.3
p.G133fs
c.397_398fs
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