Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.N240K

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.N240K
c.720T>G
Surrounding Variants
1 paper
NM_005912.3
p.N240K
c.720T>A
30 papers
NM_005912.3
p.N240S
c.719A>G
3 papers
NM_005912.3
p.M241T
c.722T>C
1 paper
NM_005912.3
p.M241K
c.722T>A
1 paper
NM_005912.3
p.N240D
c.718A>G
1 paper
NM_005912.3
p.N240H
c.718A>C
1 paper
NM_005912.3
p.A239V
c.716C>T
1 paper
NM_005912.3
p.A239D
c.716C>A
1 paper
NM_005912.3
p.A239S
c.715G>T
2 papers
NM_005912.3
p.A239T
c.715G>A
1 paper
NM_005912.3
p.K242M
c.725A>T
1 paper
NM_005912.3
p.K242R
c.725A>G
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