Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.C130C

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.C130C
c.390T>C
Surrounding Variants
1 paper
NM_005912.3
p.C130W
c.390T>G
2 papers
NM_005912.3
p.S131G
c.391A>G
2 papers
NM_005912.3
p.S131R
c.391A>C
2 papers
NM_005912.3
p.S131R
c.393C>G
2 papers
NM_005912.3
p.S131R
c.393C>A
2 papers
NM_005912.3
p.S132A
c.394T>G
2 papers
NM_005912.3
p.I129T
c.386T>C
1 paper
NM_005912.3
p.S132P
c.394T>C
1 paper
NM_005912.3
p.S131delFs
c.392_393delGC
1 paper
NM_005912.3
p.S132C
c.395C>G
4 papers
NM_005912.3
p.V128A
c.383T>C
8 papers
NM_005912.3
p.L133M
c.397T>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."