Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.W13C

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.W13C
c.39G>C
Surrounding Variants
2 papers
NM_000230.3
p.W13*
c.39G>A
1 paper
NM_000230.3
p.W13C
c.39G>T
1 paper
NM_000230.3
p.P14T
c.40C>A
1 paper
NM_000230.3
p.P14L
c.41C>T
2 papers
NM_000230.3
p.Y15C
c.44A>G
1 paper
NM_000230.3
p.L12I
c.34C>A
5 papers
NM_000230.3
p.L12fs
c.34_35fs
2 papers
NM_000230.3
p.L12V
c.34C>G
1 paper
NM_000230.3
p.L12F
c.34C>T
2 papers
NM_000230.3
p.L12fs
c.34_35fs
6 papers
NM_000230.3
p.L12delFs
c.34delC
17 papers
NM_000230.3
p.Y15*
c.45T>G
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