Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.C40*

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.C40*
c.120C>A
Surrounding Variants
1 paper
NM_005912.3
p.C40W
c.120C>G
4 papers
NM_005912.3
p.C40Y
c.119G>A
1 paper
NM_005912.3
p.C40insFs
c.118_119insAC
16 papers
NM_005912.3
p.C40R
c.118T>C
3 papers
NM_005912.3
p.G39G
c.117G>A
1 paper
NM_005912.3
p.Y41*
c.123C>G
1 paper
NM_005912.3
p.Y41*
c.123C>A
3 papers
NM_005912.3
p.E42*
c.124G>T
15 papers
NM_005912.3
p.E42K
c.124G>A
1 paper
NM_005912.3
p.E42E
c.126G>A
1 paper
NM_005912.3
p.G38G
c.114A>T
1 paper
NM_005912.3
p.G38G
c.114A>C
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