Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.C167S

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
2 papers
NM_000230.3
p.C167S
c.499T>A
Surrounding Variants
1 paper
NM_000230.3
p.G166G
c.498G>A
2 papers
NM_000230.3
p.C167S
c.500G>C
1 paper
NM_000230.3
p.C167insFs
c.500_501insTT
1 paper
NM_000230.3
p.G166A
c.497G>C
3 papers
NM_000230.3
p.G166R
c.496G>A
2 papers
NM_000230.3
p.G166R
c.496G>C
3 papers
NM_000230.3
p.P165S
c.493C>T
1 paper
NM_000230.3
p.S164R
c.492C>A
1 paper
NM_000230.3
p.S164_P165insFs
c.492_493ins4
1 paper
NM_000230.3
p.S164R
c.492C>G
1 paper
NM_000230.3
p.S164R
c.490A>C
1 paper
NM_000230.3
p.S164delFs
c.491delG
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