Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.A176V

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.A176V
c.527C>T
Surrounding Variants
1 paper
NM_005912.3
p.C177F
c.530G>T
2 papers
NM_005912.3
p.A175V
c.524C>T
1 paper
NM_005912.3
p.A175delFs
c.523delC
44 papers
NM_005912.3
p.A175T
c.523G>A
1 paper
NM_005912.3
p.C177*
c.531C>A
18 papers
NM_005912.3
p.W174C
c.522G>T
18 papers
NM_005912.3
p.W174C
c.522G>C
8 papers
NM_005912.3
p.W174*
c.522G>A
2 papers
NM_005912.3
p.T178A
c.532A>G
9 papers
NM_005912.3
p.W174*
c.521G>A
12 papers
NM_005912.3
p.T178M
c.533C>T
1 paper
NM_005912.3
p.V179fs
c.535_536fs
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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."