Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.C326R

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
13 papers
NM_005912.3
p.C326R
c.976T>C
Surrounding Variants
1 paper
NM_005912.3
p.C326fs
c.976_977fs
5 papers
NM_005912.3
p.C326delFs
c.976delA
1 paper
NM_005912.3
p.L325P
c.974T>C
1 paper
NM_005912.3
p.C326*
c.978T>A
1 paper
NM_005912.3
p.D327N
c.979G>A
16 papers
NM_005912.3
p.L325F
c.973C>T
5 papers
NM_005912.3
p.L325I
c.973C>A
2 papers
NM_005912.3
p.G324G
c.972C>T
1 paper
NM_005912.3
p.G324G
c.972C>G
1 paper
NM_005912.3
p.G324G
c.972C>A
2 papers
NM_005912.3
p.G324D
c.971G>A
2 papers
NM_005912.3
p.D327E
c.981C>G
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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."