Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.Q20R

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.Q20R
c.59A>G
Surrounding Variants
1 paper
NM_000230.3
p.Q20E
c.58C>G
1 paper
NM_000230.3
p.A21A
c.63T>C
4 papers
NM_000230.3
p.Y18C
c.53A>G
1 paper
NM_000230.3
p.Y18F
c.53A>T
8 papers
NM_000230.3
p.F17L
c.51C>A
8 papers
NM_000230.3
p.F17L
c.51C>G
4 papers
NM_000230.3
p.P23R
c.68C>G
1 paper
NM_000230.3
p.P23P
c.69C>T
1 paper
NM_000230.3
p.I24_D30delFs
c.70_89del20
8 papers
NM_000230.3
p.F17L
c.49T>C
2 papers
NM_000230.3
p.I24F
c.70A>T
1 paper
NM_000230.3
p.L16_F17insFs
c.48_49insG
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