Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.D298N

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
59 papers
NM_005912.3
p.D298N
c.892G>A
Surrounding Variants
1 paper
NM_005912.3
p.D298H
c.892G>C
1 paper
NM_005912.3
p.I297I
c.891C>T
6 papers
NM_005912.3
p.D298A
c.893A>C
1 paper
NM_005912.3
p.D298E
c.894T>G
1 paper
NM_005912.3
p.D298E
c.894T>A
1 paper
NM_005912.3
p.I297N
c.890T>A
9 papers
NM_005912.3
p.P299S
c.895C>T
9 papers
NM_005912.3
p.P299L
c.896C>T
47 papers
NM_005912.3
p.P299H
c.896C>A
9 papers
NM_005912.3
p.L300P
c.899T>C
1 paper
NM_005912.3
p.S295L
c.884C>T
2 papers
NM_005912.3
p.S295*
c.884C>G
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