Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.S52F

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.S52F
c.155C>T
Surrounding Variants
1 paper
NM_000230.3
p.S53F
c.158C>T
1 paper
NM_000230.3
p.K54K
c.162A>G
1 paper
NM_000230.3
p.Q55delFs
c.163delC
1 paper
NM_000230.3
p.S50P
c.148T>C
3 papers
NM_000230.3
p.Q55K
c.163C>A
1 paper
NM_000230.3
p.Q55E
c.163C>G
13 papers
NM_000230.3
p.Q55*
c.163C>T
1 paper
NM_000230.3
p.Q55R
c.164A>G
1 paper
NM_000230.3
p.Q49K
c.145C>A
1 paper
NM_000230.3
p.Q49*
c.145C>T
5 papers
NM_000230.3
p.Q49fs
c.145_146fs
3 papers
NM_000230.3
p.Q55Q
c.165G>A
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