Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.T127I

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.T127I
c.380C>T
Surrounding Variants
2 papers
NM_000230.3
p.E126K
c.376G>A
3 papers
NM_000230.3
p.E126Q
c.376G>C
1 paper
NM_000230.3
p.D129G
c.386A>G
1 paper
NM_000230.3
p.D129E
c.387C>A
1 paper
NM_000230.3
p.D129E
c.387C>G
1 paper
NM_000230.3
p.L125L
c.373C>T
1 paper
NM_000230.3
p.S130G
c.388A>G
1 paper
NM_000230.3
p.L131fs
c.391_392fs
1 paper
NM_000230.3
p.L131_G132ins4
c.391_395ins12
1 paper
NM_000230.3
p.S123S
c.369T>C
1 paper
NM_000230.3
p.G133insFs
c.398dupG
23 papers
NM_000230.3
p.G133delFs
c.398delG
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