Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.R165Q

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
57 papers
NM_005912.3
p.R165Q
c.494G>A
Surrounding Variants
67 papers
NM_005912.3
p.R165W
c.493C>T
10 papers
NM_005912.3
p.R165G
c.493C>G
2 papers
NM_005912.3
p.V166F
c.496G>T
38 papers
NM_005912.3
p.V166I
c.496G>A
1 paper
NM_005912.3
p.V166A
c.497T>C
1 paper
NM_005912.3
p.K164R
c.491A>G
1 paper
NM_005912.3
p.V166V
c.498T>G
1 paper
NM_005912.3
p.K164E
c.490A>G
1 paper
NM_005912.3
p.V163V
c.489T>C
1 paper
NM_005912.3
p.G167R
c.499G>C
1 paper
NM_005912.3
p.G167R
c.499G>A
1 paper
NM_005912.3
p.V163A
c.488T>C
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