Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.M281_S282del2

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.M281_S282del2
c.841_845del6
Surrounding Variants
1 paper
NM_005912.3
p.H283Y
c.847C>T
1 paper
NM_005912.3
p.H283N
c.847C>A
1 paper
NM_005912.3
p.H283H
c.849C>T
1 paper
NM_005912.3
p.F284V
c.850T>G
2 papers
NM_005912.3
p.F284L
c.850T>C
2 papers
NM_005912.3
p.F284I
c.850T>A
1 paper
NM_005912.3
p.F284C
c.851T>G
1 paper
NM_005912.3
p.F284Y
c.851T>A
2 papers
NM_005912.3
p.M281I
c.843G>T
2 papers
NM_005912.3
p.M281I
c.843G>C
2 papers
NM_005912.3
p.M281I
c.843G>A
2 papers
NM_005912.3
p.F284L
c.852T>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."