Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.V57delFs

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
2 papers
NM_000230.3
p.V57delFs
c.171delC
Surrounding Variants
1 paper
NM_000230.3
p.V57G
c.170T>G
2 papers
NM_000230.3
p.V57V
c.171C>T
1 paper
NM_000230.3
p.T58S
c.172A>T
1 paper
NM_000230.3
p.K56I
c.167A>T
1 paper
NM_000230.3
p.T58S
c.173C>G
7 papers
NM_000230.3
p.G59S
c.175G>A
3 papers
NM_000230.3
p.Q55Q
c.165G>A
1 paper
NM_000230.3
p.G59C
c.175G>T
1 paper
NM_000230.3
p.Q55R
c.164A>G
3 papers
NM_000230.3
p.Q55K
c.163C>A
1 paper
NM_000230.3
p.Q55E
c.163C>G
13 papers
NM_000230.3
p.Q55*
c.163C>T
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