Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.Q273*

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
3 papers
NM_005912.3
p.Q273*
c.817C>T
Surrounding Variants
1 paper
NM_005912.3
p.Q273E
c.817C>G
1 paper
NM_005912.3
p.Q273R
c.818A>G
3 papers
NM_005912.3
p.Q273P
c.818A>C
1 paper
NM_005912.3
p.Q273H
c.819G>T
1 paper
NM_005912.3
p.Q273H
c.819G>C
10 papers
NM_005912.3
p.P272L
c.815C>T
2 papers
NM_005912.3
p.P272R
c.815C>G
1 paper
NM_005912.3
p.P272A
c.814C>G
33 papers
NM_005912.3
p.N274S
c.821A>G
11 papers
NM_005912.3
p.C271F
c.812G>T
51 papers
NM_005912.3
p.C271Y
c.812G>A
31 papers
NM_005912.3
p.C271R
c.811T>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."