Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.I143N

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.I143N
c.428T>A
Surrounding Variants
1 paper
NM_005912.3
p.I143S
c.428T>G
1 paper
NM_005912.3
p.I143I
c.429T>A
1 paper
NM_005912.3
p.I143V
c.427A>G
3 papers
NM_005912.3
p.A144S
c.430G>T
1 paper
NM_005912.3
p.S142L
c.425C>T
2 papers
NM_005912.3
p.A144G
c.431C>G
2 papers
NM_005912.3
p.S142A
c.424T>G
1 paper
NM_005912.3
p.V145M
c.433G>A
2 papers
NM_005912.3
p.L141R
c.422T>G
4 papers
NM_005912.3
p.V145A
c.434T>C
4 papers
NM_005912.3
p.L141H
c.422T>A
1 paper
NM_005912.3
p.L140fs
c.418_419fs
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