Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.V134D

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.V134D
c.401T>A
Surrounding Variants
1 paper
NM_000230.3
p.L135M
c.403C>A
2 papers
NM_000230.3
p.G133G
c.399T>C
1 paper
NM_000230.3
p.V134delFs
c.400delG
4 papers
NM_000230.3
p.G133V
c.398G>T
3 papers
NM_000230.3
p.L135L
c.405G>C
11 papers
NM_000230.3
p.G133fs
c.397_398fs
2 papers
NM_000230.3
p.G133del1
c.397_398delGGT
2 papers
NM_000230.3
p.E136G
c.407A>G
1 paper
NM_000230.3
p.E136V
c.407A>T
2 papers
NM_000230.3
p.G132E
c.395G>A
2 papers
NM_000230.3
p.G132R
c.394G>A
1 paper
NM_000230.3
p.G132R
c.394G>C
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