Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.G181D

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
39 papers
NM_005912.3
p.G181D
c.542G>A
Surrounding Variants
1 paper
NM_005912.3
p.G181V
c.542G>T
1 paper
NM_005912.3
p.G181R
c.541G>C
1 paper
NM_005912.3
p.G181G
c.543C>T
1 paper
NM_005912.3
p.G181G
c.543C>G
1 paper
NM_005912.3
p.S180*
c.539C>G
1 paper
NM_005912.3
p.S180*
c.539C>A
7 papers
NM_005912.3
p.S180P
c.538T>C
3 papers
NM_005912.3
p.V179A
c.536T>C
3 papers
NM_005912.3
p.L183*
c.548T>A
1 paper
NM_005912.3
p.V179delFs
c.535delC
1 paper
NM_005912.3
p.V179fs
c.535_536fs
3 papers
NM_005912.3
p.L183F
c.549G>T
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