Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.Y268D

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.Y268D
c.802T>G
Surrounding Variants
2 papers
NM_005912.3
p.Y268H
c.802T>C
1 paper
NM_005912.3
p.Y268N
c.802T>A
4 papers
NM_005912.3
p.F267L
c.801C>G
3 papers
NM_005912.3
p.F267L
c.801C>A
1 paper
NM_005912.3
p.Y268F
c.803A>T
3 papers
NM_005912.3
p.Y268C
c.803A>G
3 papers
NM_005912.3
p.F267L
c.799T>C
2 papers
NM_005912.3
p.I269V
c.805A>G
42 papers
NM_005912.3
p.I269N
c.806T>A
1 paper
NM_005912.3
p.I266M
c.798A>G
2 papers
NM_005912.3
p.I266T
c.797T>C
1 paper
NM_005912.3
p.I266K
c.797T>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."