Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.C279R

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.C279R
c.835T>C
Surrounding Variants
1 paper
NM_005912.3
p.C279Y
c.836G>A
1 paper
NM_005912.3
p.C279C
c.837C>T
3 papers
NM_005912.3
p.C279insFs
c.835_836dupTG
13 papers
NM_005912.3
p.F280L
c.838T>C
2 papers
NM_005912.3
p.F280fs
c.838_839fs
1 paper
NM_005912.3
p.F280C
c.839T>G
17 papers
NM_005912.3
p.C277*
c.831T>A
1 paper
NM_005912.3
p.Y276_C277delFs
c.828_829delAA
1 paper
NM_005912.3
p.F262_Y276del15
c.784_827del45
13 papers
NM_005912.3
p.F280L
c.840C>G
1 paper
NM_005912.3
p.F280fs
c.838_839fs
13 papers
NM_005912.3
p.F280L
c.840C>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."