Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.C84Y

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.C84Y
c.251G>A
Surrounding Variants
1 paper
NM_005912.3
p.C84F
c.251G>T
16 papers
NM_005912.3
p.C84R
c.250T>C
2 papers
NM_005912.3
p.C84*
c.252C>A
2 papers
NM_005912.3
p.S85G
c.253A>G
1 paper
NM_005912.3
p.S85R
c.253A>C
1 paper
NM_005912.3
p.I83S
c.248T>G
5 papers
NM_005912.3
p.I83N
c.248T>A
2 papers
NM_005912.3
p.S85I
c.254G>T
1 paper
NM_005912.3
p.S85R
c.255C>G
1 paper
NM_005912.3
p.S85R
c.255C>A
2 papers
NM_005912.3
p.I83V
c.247A>G
1 paper
NM_005912.3
p.F82L
c.246C>G
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