Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.N62S

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
42 papers
NM_005912.3
p.N62S
c.185A>G
Surrounding Variants
1 paper
NM_005912.3
p.N62N
c.186T>C
1 paper
NM_005912.3
p.N62D
c.184A>G
1 paper
NM_005912.3
p.I63F
c.187A>T
2 papers
NM_005912.3
p.I63T
c.188T>C
5 papers
NM_005912.3
p.E61G
c.182A>G
2 papers
NM_005912.3
p.E61A
c.182A>C
10 papers
NM_005912.3
p.E61*
c.181G>T
27 papers
NM_005912.3
p.E61K
c.181G>A
1 paper
NM_005912.3
p.L64I
c.190T>A
5 papers
NM_005912.3
p.L64*
c.191T>G
5 papers
NM_005912.3
p.L64*
c.191T>A
2 papers
NM_005912.3
p.L60M
c.178T>A
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