Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.S306N

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
4 papers
NM_005912.3
p.S306N
c.917G>A
Surrounding Variants
1 paper
NM_005912.3
p.R305delFs
c.915delC
2 papers
NM_005912.3
p.R305R
c.915G>C
28 papers
NM_005912.3
p.Q307*
c.919C>T
1 paper
NM_005912.3
p.R305L
c.914G>T
21 papers
NM_005912.3
p.R305Q
c.914G>A
16 papers
NM_005912.3
p.R305W
c.913C>T
2 papers
NM_005912.3
p.Q307H
c.921A>T
2 papers
NM_005912.3
p.Q307H
c.921A>C
15 papers
NM_005912.3
p.E308K
c.922G>A
2 papers
NM_005912.3
p.E308V
c.923A>T
14 papers
NM_005912.3
p.L304F
c.910C>T
1 paper
NM_005912.3
p.E308D
c.924A>T
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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."