Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.R220W

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
2 papers
NM_005912.3
p.R220W
c.658A>T
Surrounding Variants
1 paper
NM_005912.3
p.R220S
c.660G>T
1 paper
NM_005912.3
p.R220S
c.660G>C
24 papers
NM_005912.3
p.A219V
c.656C>T
1 paper
NM_005912.3
p.A219G
c.656C>G
1 paper
NM_005912.3
p.A219S
c.655G>T
1 paper
NM_005912.3
p.M218I
c.654G>T
1 paper
NM_005912.3
p.M218I
c.654G>C
1 paper
NM_005912.3
p.M218I
c.654G>A
10 papers
NM_005912.3
p.M218T
c.653T>C
2 papers
NM_005912.3
p.L217P
c.650T>C
1 paper
NM_005912.3
p.L217L
c.649C>T
1 paper
NM_005912.3
p.L217M
c.649C>A
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