Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.N72K

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
9 papers
NM_005912.3
p.N72K
c.216C>G
Surrounding Variants
4 papers
NM_005912.3
p.N72N
c.216C>T
9 papers
NM_005912.3
p.N72K
c.216C>A
4 papers
NM_005912.3
p.N72S
c.215A>G
1 paper
NM_005912.3
p.K73E
c.217A>G
5 papers
NM_005912.3
p.K73R
c.218A>G
2 papers
NM_005912.3
p.K73T
c.218A>C
3 papers
NM_005912.3
p.K73N
c.219G>T
3 papers
NM_005912.3
p.K71N
c.213G>T
3 papers
NM_005912.3
p.K73N
c.219G>C
3 papers
NM_005912.3
p.K71N
c.213G>C
2 papers
NM_005912.3
p.K73K
c.219G>A
2 papers
NM_005912.3
p.K71R
c.212A>G
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