Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.E308V

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.E308V
c.923A>T
Surrounding Variants
15 papers
NM_005912.3
p.E308K
c.922G>A
1 paper
NM_005912.3
p.E308D
c.924A>T
1 paper
NM_005912.3
p.E308D
c.924A>C
2 papers
NM_005912.3
p.Q307H
c.921A>T
2 papers
NM_005912.3
p.Q307H
c.921A>C
1 paper
NM_005912.3
p.L309P
c.926T>C
4 papers
NM_005912.3
p.L309Q
c.926T>A
28 papers
NM_005912.3
p.Q307*
c.919C>T
10 papers
NM_005912.3
p.R310K
c.929G>A
4 papers
NM_005912.3
p.S306N
c.917G>A
1 paper
NM_005912.3
p.R310S
c.930G>T
1 paper
NM_005912.3
p.R310S
c.930G>C
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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."