Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.Q25*

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
8 papers
NM_000230.3
p.Q25*
c.73C>T
Surrounding Variants
2 papers
NM_000230.3
p.K26insFs
c.76_77insTA
1 paper
NM_000230.3
p.Q25Q
c.75A>G
1 paper
NM_000230.3
p.K26E
c.76A>G
2 papers
NM_000230.3
p.I24F
c.70A>T
1 paper
NM_000230.3
p.P23P
c.69C>T
1 paper
NM_000230.3
p.I24_D30delFs
c.70_89del20
4 papers
NM_000230.3
p.P23R
c.68C>G
1 paper
NM_000230.3
p.V27I
c.79G>A
1 paper
NM_000230.3
p.Q28del1
c.82_83delCAA
2 papers
NM_000230.3
p.Q28R
c.83A>G
1 paper
NM_000230.3
p.A21A
c.63T>C
1 paper
NM_000230.3
p.D29G
c.86A>G
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