Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.S141C

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
13 papers
NM_000230.3
p.S141C
c.422C>G
Surrounding Variants
1 paper
NM_000230.3
p.T142_E143delFs
c.424_427del4
1 paper
NM_000230.3
p.S141T
c.421T>A
3 papers
NM_000230.3
p.S141A
c.421T>G
2 papers
NM_000230.3
p.T142A
c.424A>G
1 paper
NM_000230.3
p.Y140*
c.420C>A
11 papers
NM_000230.3
p.Y140*
c.420C>G
2 papers
NM_000230.3
p.Y140C
c.419A>G
3 papers
NM_000230.3
p.Y140fs
c.418_419fs
1 paper
NM_000230.3
p.G139G
c.417C>T
1 paper
NM_000230.3
p.E143K
c.427G>A
2 papers
NM_000230.3
p.E143Q
c.427G>C
4 papers
NM_000230.3
p.G139delFs
c.417delC
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