Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.L141R

MC4R

858 papers

RefSeq Summary

The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by...

Pfam Domains

7tm_1aa 61–302UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

melanocortin 4 receptor

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005912.3
p.L141R
c.422T>G
Surrounding Variants
4 papers
NM_005912.3
p.L141H
c.422T>A
2 papers
NM_005912.3
p.S142A
c.424T>G
1 paper
NM_005912.3
p.L140fs
c.418_419fs
4 papers
NM_005912.3
p.L140R
c.419T>G
2 papers
NM_005912.3
p.L140P
c.419T>C
1 paper
NM_005912.3
p.L140Q
c.419T>A
2 papers
NM_005912.3
p.L140delFs
c.418delG
1 paper
NM_005912.3
p.S142L
c.425C>T
1 paper
NM_005912.3
p.L140V
c.418C>G
1 paper
NM_005912.3
p.L140M
c.418C>A
4 papers
NM_005912.3
p.S139R
c.417C>G
4 papers
NM_005912.3
p.S139R
c.417C>A
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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."