Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.Y287*

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
15 papers
NM_005912.3
p.Y287*
c.861T>G
Surrounding Variants
15 papers
NM_005912.3
p.Y287*
c.861T>A
1 paper
NM_005912.3
p.Y287C
c.860A>G
1 paper
NM_005912.3
p.L288L
c.864C>A
12 papers
NM_005912.3
p.I289L
c.865A>T
12 papers
NM_005912.3
p.I289L
c.865A>C
4 papers
NM_005912.3
p.L286V
c.856T>G
1 paper
NM_005912.3
p.I289M
c.867A>G
1 paper
NM_005912.3
p.L290L
c.868C>T
1 paper
NM_005912.3
p.L290P
c.869T>C
2 papers
NM_005912.3
p.F284L
c.852T>G
2 papers
NM_005912.3
p.F284L
c.852T>A
1 paper
NM_005912.3
p.F284C
c.851T>G
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