Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.C7W

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.C7W
c.21C>G
Surrounding Variants
1 paper
NM_000230.3
p.C7C
c.21C>T
2 papers
NM_000230.3
p.G8R
c.22G>A
1 paper
NM_000230.3
p.G8R
c.22G>C
1 paper
NM_000230.3
p.F9L
c.25T>C
1 paper
NM_000230.3
p.L6R
c.17T>G
1 paper
NM_000230.3
p.L6fs
c.16_17fs
1 paper
NM_000230.3
p.F9L
c.27C>A
1 paper
NM_000230.3
p.F9L
c.27C>G
1 paper
NM_000230.3
p.T5T
c.15C>T
1 paper
NM_000230.3
p.T5N
c.14C>A
1 paper
NM_000230.3
p.L10L
c.28T>C
1 paper
NM_000230.3
p.T5S
c.13A>T
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