Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.P78H

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.P78H
c.233C>A
Surrounding Variants
34 papers
NM_005912.3
p.P78L
c.233C>T
2 papers
NM_005912.3
p.M79V
c.235A>G
5 papers
NM_005912.3
p.S77L
c.230C>T
1 paper
NM_005912.3
p.S77*
c.230C>G
1 paper
NM_005912.3
p.S77*
c.230C>A
17 papers
NM_005912.3
p.M79I
c.237G>T
17 papers
NM_005912.3
p.M79I
c.237G>C
17 papers
NM_005912.3
p.M79I
c.237G>A
1 paper
NM_005912.3
p.Y80H
c.238T>C
1 paper
NM_005912.3
p.Y80N
c.238T>A
5 papers
NM_005912.3
p.H76L
c.227A>T
3 papers
NM_005912.3
p.Y80F
c.239A>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."