Varaico: Literature-Extracted Genetic Variants

Gene:MC4R

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
1–12 of 1056 variants
215 papers
NM_005912.3
p.V103I
c.307G>A
146 papers
NM_005912.3
p.I251L
c.751A>C
84 papers
NM_005912.3
p.S127L
c.380C>T
77 papers
NM_005912.3
p.Y35*
c.105C>A
76 papers
NM_005912.3
p.Y35*
c.105C>G
71 papers
NM_005912.3
p.T112M
c.335C>T
67 papers
NM_005912.3
p.R165W
c.493C>T
62 papers
NM_005912.3
p.D37V
c.110A>T
59 papers
NM_005912.3
p.D298N
c.892G>A
57 papers
NM_005912.3
p.R165Q
c.494G>A
56 papers
NM_005912.3
p.T150I
c.449C>T
53 papers
NM_005912.3
p.I170V
c.508A>G
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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."