Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.V193V

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
1 paper
NM_005912.3
p.V193V
c.579C>G
Surrounding Variants
4 papers
NM_005912.3
p.V193V
c.579C>T
2 papers
NM_005912.3
p.I194F
c.580A>T
8 papers
NM_005912.3
p.I194T
c.581T>C
1 paper
NM_005912.3
p.V193I
c.577G>A
5 papers
NM_005912.3
p.I195V
c.583A>G
9 papers
NM_005912.3
p.I195S
c.584T>G
3 papers
NM_005912.3
p.I195T
c.584T>C
1 paper
NM_005912.3
p.I195M
c.585C>G
1 paper
NM_005912.3
p.C196R
c.586T>C
1 paper
NM_005912.3
p.S191ins1
c.572_573insAAA
5 papers
NM_005912.3
p.S191T
c.572G>C
4 papers
NM_005912.3
p.C196Y
c.587G>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."