Varaico: Literature-Extracted Genetic Variants

Gene:LEP

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
1–12 of 373 variants
51 papers
NM_000230.3
p.R105W
c.313C>T
49 papers
NM_000230.3
p.N103K
c.309C>G
48 papers
NM_000230.3
p.N103K
c.309C>A
29 papers
NM_000230.3
p.L72S
c.215T>C
23 papers
NM_000230.3
p.G133delFs
c.398delG
22 papers
NM_000230.3
p.D100Y
c.298G>T
19 papers
NM_000230.3
p.I35_K36del1
c.104_106delTCA
17 papers
NM_000230.3
p.Y15*
c.45T>G
17 papers
NM_000230.3
p.V110M
c.328G>A
14 papers
NM_000230.3
p.D100N
c.298G>A
13 papers
NM_000230.3
p.Q55*
c.163C>T
13 papers
NM_000230.3
p.V94M
c.280G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."