Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.C138F

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.C138F
c.413G>T
Surrounding Variants
1 paper
NM_005912.3
p.C138*
c.414C>A
2 papers
NM_005912.3
p.S139fs
c.415_416fs
4 papers
NM_005912.3
p.S139R
c.415A>C
35 papers
NM_005912.3
p.I137T
c.410T>C
1 paper
NM_005912.3
p.S139I
c.416G>T
4 papers
NM_005912.3
p.S139R
c.417C>G
4 papers
NM_005912.3
p.S139R
c.417C>A
1 paper
NM_005912.3
p.I137F
c.409A>T
1 paper
NM_005912.3
p.I137V
c.409A>G
1 paper
NM_005912.3
p.S136S
c.408C>T
1 paper
NM_005912.3
p.L140V
c.418C>G
1 paper
NM_005912.3
p.L140M
c.418C>A
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