Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.P299H

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
47 papers
NM_005912.3
p.P299H
c.896C>A
Surrounding Variants
9 papers
NM_005912.3
p.P299L
c.896C>T
9 papers
NM_005912.3
p.P299S
c.895C>T
1 paper
NM_005912.3
p.D298E
c.894T>G
1 paper
NM_005912.3
p.D298E
c.894T>A
9 papers
NM_005912.3
p.L300P
c.899T>C
6 papers
NM_005912.3
p.D298A
c.893A>C
1 paper
NM_005912.3
p.D298H
c.892G>C
59 papers
NM_005912.3
p.D298N
c.892G>A
1 paper
NM_005912.3
p.I297I
c.891C>T
2 papers
NM_005912.3
p.I301V
c.901A>G
1 paper
NM_005912.3
p.I301L
c.901A>C
29 papers
NM_005912.3
p.I301T
c.902T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."