Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.I226V

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.I226V
c.676A>G
Surrounding Variants
10 papers
NM_005912.3
p.I226T
c.677T>C
5 papers
NM_005912.3
p.A227T
c.679G>A
2 papers
NM_005912.3
p.A227delins
c.680_681delinsTT
1 paper
NM_005912.3
p.A227delFs
c.679delC
1 paper
NM_005912.3
p.K224R
c.671A>G
1 paper
NM_005912.3
p.K224_R225insC
c.670_674ins3
1 paper
NM_005912.3
p.V228A
c.683T>C
1 paper
NM_005912.3
p.I223I
c.669T>C
1 paper
NM_005912.3
p.V228V
c.684C>A
2 papers
NM_005912.3
p.L229F
c.685C>T
1 paper
NM_005912.3
p.P230A
c.688C>G
28 papers
NM_005912.3
p.P230L
c.689C>T
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."