Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.T48M

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
2 papers
NM_000230.3
p.T48M
c.143C>T
Surrounding Variants
1 paper
NM_000230.3
p.T48A
c.142A>G
1 paper
NM_000230.3
p.T48fs
c.142_143fs
3 papers
NM_000230.3
p.T48T
c.144G>A
1 paper
NM_000230.3
p.T48T
c.144G>C
4 papers
NM_000230.3
p.T48Fs
c.144delinsTACFs
2 papers
NM_000230.3
p.H47Q
c.141C>A
1 paper
NM_000230.3
p.H47Q
c.141C>G
1 paper
NM_000230.3
p.T48_Q49Splc
c.144+1G>T
1 paper
NM_000230.3
p.H47delFs
c.141delC
1 paper
NM_000230.3
p.H47Y
c.139C>T
1 paper
NM_000230.3
p.S46S
c.138A>C
1 paper
NM_000230.3
p.S46S
c.138A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."