Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.I97L

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.I97L
c.289A>T
Surrounding Variants
1 paper
NM_000230.3
p.I97L
c.289A>C
2 papers
NM_000230.3
p.I97T
c.290T>C
1 paper
NM_000230.3
p.S98C
c.293C>G
1 paper
NM_000230.3
p.S98_L101Fs
c.293_301delinsACFs
2 papers
NM_000230.3
p.I95N
c.284T>A
1 paper
NM_000230.3
p.I95T
c.284T>C
1 paper
NM_000230.3
p.I95V
c.283A>G
1 paper
NM_000230.3
p.N99Y
c.295A>T
1 paper
NM_000230.3
p.N99_D100ins1
c.297_298insAGC
2 papers
NM_000230.3
p.N99S
c.296A>G
1 paper
NM_000230.3
p.V94V
c.282G>A
14 papers
NM_000230.3
p.D100N
c.298G>A
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