Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.H76Y

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.H76Y
c.226C>T
Surrounding Variants
1 paper
NM_005912.3
p.L75delFs
c.225delC
5 papers
NM_005912.3
p.H76L
c.227A>T
30 papers
NM_005912.3
p.H76R
c.227A>G
1 paper
NM_005912.3
p.L75insFs
c.224_225insC
5 papers
NM_005912.3
p.S77L
c.230C>T
1 paper
NM_005912.3
p.S77*
c.230C>G
1 paper
NM_005912.3
p.S77*
c.230C>A
4 papers
NM_005912.3
p.N74I
c.221A>T
3 papers
NM_005912.3
p.K73N
c.219G>T
3 papers
NM_005912.3
p.K73N
c.219G>C
2 papers
NM_005912.3
p.K73K
c.219G>A
34 papers
NM_005912.3
p.P78L
c.233C>T
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