Varaico: Literature-Extracted Genetic Variants

Gene:LEP
Variant:p.D29D

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.D29D
c.87T>C
Surrounding Variants
1 paper
NM_000230.3
p.D29G
c.86A>G
2 papers
NM_000230.3
p.Q28R
c.83A>G
1 paper
NM_000230.3
p.Q28del1
c.82_83delCAA
1 paper
NM_000230.3
p.V27I
c.79G>A
1 paper
NM_000230.3
p.K26E
c.76A>G
1 paper
NM_000230.3
p.T33N
c.98C>A
2 papers
NM_000230.3
p.T33I
c.98C>T
2 papers
NM_000230.3
p.K26insFs
c.76_77insTA
1 paper
NM_000230.3
p.Q25Q
c.75A>G
1 paper
NM_000230.3
p.L34I
c.100C>A
4 papers
NM_000230.3
p.L34F
c.100C>T
19 papers
NM_000230.3
p.I35_K36del1
c.104_106delTCA
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