Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.L133M

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
8 papers
NM_005912.3
p.L133M
c.397T>A
Surrounding Variants
1 paper
NM_005912.3
p.L133*
c.398T>A
1 paper
NM_005912.3
p.L133F
c.399G>T
1 paper
NM_005912.3
p.L133F
c.399G>C
1 paper
NM_005912.3
p.S132C
c.395C>G
2 papers
NM_005912.3
p.S132A
c.394T>G
1 paper
NM_005912.3
p.S132P
c.394T>C
1 paper
NM_005912.3
p.S131delFs
c.392_393delGC
1 paper
NM_005912.3
p.L134insFs
c.400_401insGG
2 papers
NM_005912.3
p.L134P
c.401T>C
2 papers
NM_005912.3
p.S131R
c.393C>G
2 papers
NM_005912.3
p.S131R
c.393C>A
1 paper
NM_005912.3
p.A135S
c.403G>T
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