Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.A27_S30delFs

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
1 paper
NM_005912.3
p.A27_S30delFs
c.79_89del11
Surrounding Variants
37 papers
NM_005912.3
p.S30F
c.89C>T
1 paper
NM_005912.3
p.L31F
c.91C>T
1 paper
NM_005912.3
p.S30C
c.89C>G
1 paper
NM_005912.3
p.S30Y
c.89C>A
1 paper
NM_005912.3
p.S30delFs
c.88delA
2 papers
NM_005912.3
p.S30P
c.88T>C
1 paper
NM_005912.3
p.L31P
c.92T>C
1 paper
NM_005912.3
p.E29insFs
c.86_87insA
1 paper
NM_005912.3
p.E29E
c.87G>A
1 paper
NM_005912.3
p.G32R
c.94G>C
1 paper
NM_005912.3
p.G32R
c.94G>A
10 papers
NM_005912.3
p.G32E
c.95G>A
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