Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.S295*

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.S295*
c.884C>G
Surrounding Variants
1 paper
NM_005912.3
p.S295L
c.884C>T
2 papers
NM_005912.3
p.S295*
c.884C>A
1 paper
NM_005912.3
p.S295A
c.883T>G
23 papers
NM_005912.3
p.S295P
c.883T>C
1 paper
NM_005912.3
p.N294K
c.882T>G
1 paper
NM_005912.3
p.N294K
c.882T>A
1 paper
NM_005912.3
p.N294D
c.880A>G
2 papers
NM_005912.3
p.N294H
c.880A>C
1 paper
NM_005912.3
p.I297N
c.890T>A
3 papers
NM_005912.3
p.C293Y
c.878G>A
2 papers
NM_005912.3
p.M292_C293del1
c.875_877delACA
4 papers
NM_005912.3
p.C293R
c.877T>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."