Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.I42T

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.I42T
c.125T>C
Surrounding Variants
1 paper
NM_000230.3
p.I42I
c.126C>T
1 paper
NM_000230.3
p.R41G
c.121A>G
1 paper
NM_000230.3
p.D44insFs
c.131_132ins4
2 papers
NM_000230.3
p.D44V
c.131A>T
1 paper
NM_000230.3
p.T40I
c.119C>T
1 paper
NM_000230.3
p.T40insFs
c.118_119insAC
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
2 papers
NM_000230.3
p.V39I
c.115G>A
1 paper
NM_000230.3
p.I38I
c.114T>C
2 papers
NM_000230.3
p.T48delFs
c.142_143delAC
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