Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.Y80*

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
18 papers
NM_005912.3
p.Y80*
c.240C>A
Surrounding Variants
18 papers
NM_005912.3
p.Y80*
c.240C>G
1 paper
NM_005912.3
p.F81V
c.241T>G
3 papers
NM_005912.3
p.Y80F
c.239A>T
6 papers
NM_005912.3
p.Y80C
c.239A>G
1 paper
NM_005912.3
p.L75_Y80insFs
c.224_240dup17
1 paper
NM_005912.3
p.Y80H
c.238T>C
1 paper
NM_005912.3
p.Y80N
c.238T>A
17 papers
NM_005912.3
p.M79I
c.237G>T
17 papers
NM_005912.3
p.M79I
c.237G>C
17 papers
NM_005912.3
p.M79I
c.237G>A
1 paper
NM_005912.3
p.F82insFs
c.244_245ins4
1 paper
NM_005912.3
p.F82V
c.244T>G
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