Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.I289L

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
12 papers
NM_005912.3
p.I289L
c.865A>C
Surrounding Variants
12 papers
NM_005912.3
p.I289L
c.865A>T
1 paper
NM_005912.3
p.L288L
c.864C>A
1 paper
NM_005912.3
p.I289M
c.867A>G
1 paper
NM_005912.3
p.L290L
c.868C>T
15 papers
NM_005912.3
p.Y287*
c.861T>G
1 paper
NM_005912.3
p.L290P
c.869T>C
15 papers
NM_005912.3
p.Y287*
c.861T>A
1 paper
NM_005912.3
p.Y287C
c.860A>G
1 paper
NM_005912.3
p.I291fs
c.871_872fs
1 paper
NM_005912.3
p.I291F
c.871A>T
3 papers
NM_005912.3
p.L290delFs
c.870delC
1 paper
NM_005912.3
p.I291insFs
c.872_873insC
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."