Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.E102D

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.E102D
c.306G>C
Surrounding Variants
1 paper
NM_000230.3
p.N103H
c.307A>C
2 papers
NM_000230.3
p.N103S
c.308A>G
48 papers
NM_000230.3
p.N103K
c.309C>A
49 papers
NM_000230.3
p.N103K
c.309C>G
1 paper
NM_000230.3
p.N103N
c.309C>T
6 papers
NM_000230.3
p.L104_D106del3
c.310_317del9
1 paper
NM_000230.3
p.E102delFs
c.304_305delGA
1 paper
NM_000230.3
p.L101insFs
c.302_303insCG
1 paper
NM_000230.3
p.D100G
c.299A>G
51 papers
NM_000230.3
p.R105W
c.313C>T
14 papers
NM_000230.3
p.D100N
c.298G>A
4 papers
NM_000230.3
p.R105Q
c.314G>A
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