Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.G34D

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.G34D
c.101G>A
Surrounding Variants
7 papers
NM_005912.3
p.G34A
c.101G>C
1 paper
NM_005912.3
p.G34C
c.100G>T
2 papers
NM_005912.3
p.K33_G34insFs
c.99_100insA
1 paper
NM_005912.3
p.G34R
c.100G>C
1 paper
NM_005912.3
p.G32_K33delFs
c.96_97delTT
1 paper
NM_005912.3
p.G34fs
c.100_101fs
1 paper
NM_005912.3
p.K33N
c.99A>T
11 papers
NM_005912.3
p.Y35C
c.104A>G
1 paper
NM_005912.3
p.Y35S
c.104A>C
1 paper
NM_005912.3
p.K33T
c.98A>C
2 papers
NM_005912.3
p.Y35Y
c.105C>T
76 papers
NM_005912.3
p.Y35*
c.105C>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."