Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.A87A

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.A87A
c.261T>A
Surrounding Variants
1 paper
NM_005912.3
p.V88M
c.262G>A
8 papers
NM_005912.3
p.A87D
c.260C>A
1 paper
NM_005912.3
p.A87S
c.259G>T
1 paper
NM_005912.3
p.A87P
c.259G>C
1 paper
NM_005912.3
p.A87T
c.259G>A
2 papers
NM_005912.3
p.L86F
c.258G>T
2 papers
NM_005912.3
p.L86F
c.258G>C
1 paper
NM_005912.3
p.A89S
c.265G>T
2 papers
NM_005912.3
p.A89T
c.265G>A
1 paper
NM_005912.3
p.A89G
c.266C>G
1 paper
NM_005912.3
p.A89A
c.267T>C
1 paper
NM_005912.3
p.S85R
c.255C>G
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