Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.D44insFs

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.D44insFs
c.131_132ins4
Surrounding Variants
2 papers
NM_000230.3
p.D44V
c.131A>T
5 papers
NM_000230.3
p.I45V
c.133A>G
1 paper
NM_000230.3
p.I45delFs
c.135delT
1 paper
NM_000230.3
p.I45N
c.134T>A
1 paper
NM_000230.3
p.I42I
c.126C>T
2 papers
NM_000230.3
p.T48delFs
c.142_143delAC
1 paper
NM_000230.3
p.S46*
c.137C>G
1 paper
NM_000230.3
p.S46L
c.137C>T
1 paper
NM_000230.3
p.I42T
c.125T>C
1 paper
NM_000230.3
p.S46S
c.138A>C
1 paper
NM_000230.3
p.S46S
c.138A>G
1 paper
NM_000230.3
p.H47Y
c.139C>T
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