Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.G32G

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.G32G
c.96A>G
Surrounding Variants
1 paper
NM_005912.3
p.G32G
c.96A>C
10 papers
NM_005912.3
p.G32E
c.95G>A
1 paper
NM_005912.3
p.G32R
c.94G>C
1 paper
NM_005912.3
p.G32R
c.94G>A
1 paper
NM_005912.3
p.K33T
c.98A>C
1 paper
NM_005912.3
p.K33N
c.99A>T
1 paper
NM_005912.3
p.L31P
c.92T>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
7 papers
NM_005912.3
p.G34A
c.101G>C
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