Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.G324D

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
2 papers
NM_005912.3
p.G324D
c.971G>A
Surrounding Variants
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
16 papers
NM_005912.3
p.L325F
c.973C>T
5 papers
NM_005912.3
p.L325I
c.973C>A
1 paper
NM_005912.3
p.L325P
c.974T>C
2 papers
NM_005912.3
p.G323V
c.968G>T
6 papers
NM_005912.3
p.G323E
c.968G>A
13 papers
NM_005912.3
p.C326R
c.976T>C
1 paper
NM_005912.3
p.C326fs
c.976_977fs
1 paper
NM_005912.3
p.L322R
c.965T>G
5 papers
NM_005912.3
p.C326delFs
c.976delA
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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."