Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.L60M

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.L60M
c.178T>A
Surrounding Variants
1 paper
NM_005912.3
p.L59ins1
c.176_177insGGG
1 paper
NM_005912.3
p.L59S
c.176T>C
10 papers
NM_005912.3
p.E61*
c.181G>T
27 papers
NM_005912.3
p.E61K
c.181G>A
2 papers
NM_005912.3
p.S58fs
c.172_173fs
5 papers
NM_005912.3
p.E61G
c.182A>G
2 papers
NM_005912.3
p.E61A
c.182A>C
36 papers
NM_005912.3
p.S58C
c.172A>T
1 paper
NM_005912.3
p.N62D
c.184A>G
1 paper
NM_005912.3
p.S58G
c.172A>G
5 papers
NM_005912.3
p.I57delFs
c.171delG
2 papers
NM_005912.3
p.I57I
c.171C>T
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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."