Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.D90N

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
49 papers
NM_005912.3
p.D90N
c.268G>A
Surrounding Variants
1 paper
NM_005912.3
p.M79_A89del11
c.235_266del33
1 paper
NM_005912.3
p.A89A
c.267T>C
2 papers
NM_005912.3
p.D90G
c.269A>G
4 papers
NM_005912.3
p.D90A
c.269A>C
1 paper
NM_005912.3
p.A89G
c.266C>G
1 paper
NM_005912.3
p.A89S
c.265G>T
2 papers
NM_005912.3
p.A89T
c.265G>A
1 paper
NM_005912.3
p.M91V
c.271A>G
4 papers
NM_005912.3
p.M91R
c.272T>G
2 papers
NM_005912.3
p.M91K
c.272T>A
1 paper
NM_005912.3
p.M91I
c.273G>T
1 paper
NM_005912.3
p.M91I
c.273G>C
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