Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.Q160H

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.Q160H
c.480G>T
Surrounding Variants
1 paper
NM_000230.3
p.Q160H
c.480G>C
12 papers
NM_000230.3
p.L161delFs
c.481_482delCT
2 papers
NM_000230.3
p.L161fs
c.481_482fs
5 papers
NM_000230.3
p.L161fs
c.481_482fs
3 papers
NM_000230.3
p.Q160delFs
c.479delA
1 paper
NM_000230.3
p.L161P
c.482T>C
1 paper
NM_000230.3
p.L161R
c.482T>G
1 paper
NM_000230.3
p.W159*
c.476G>A
1 paper
NM_000230.3
p.D162N
c.484G>A
1 paper
NM_000230.3
p.L163R
c.488T>G
1 paper
NM_000230.3
p.L163L
c.489C>T
1 paper
NM_000230.3
p.S164R
c.490A>C
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