Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.S116S

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.S116S
c.348C>T
Surrounding Variants
3 papers
NM_000230.3
p.C117S
c.349T>A
12 papers
NM_000230.3
p.C117Y
c.350G>A
3 papers
NM_000230.3
p.C117S
c.350G>C
11 papers
NM_000230.3
p.C117F
c.350G>T
1 paper
NM_000230.3
p.C117C
c.351C>T
1 paper
NM_000230.3
p.H118Y
c.352C>T
1 paper
NM_000230.3
p.K115E
c.343A>G
13 papers
NM_000230.3
p.H118L
c.353A>T
1 paper
NM_000230.3
p.S114S
c.342T>A
1 paper
NM_000230.3
p.S114C
c.341C>G
1 paper
NM_000230.3
p.L119V
c.355T>G
2 papers
NM_000230.3
p.S114T
c.340T>A
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