Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.F82L

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.F82L
c.246C>G
Surrounding Variants
1 paper
NM_005912.3
p.F82L
c.246C>A
5 papers
NM_005912.3
p.F82S
c.245T>C
1 paper
NM_005912.3
p.F82Y
c.245T>A
2 papers
NM_005912.3
p.I83V
c.247A>G
1 paper
NM_005912.3
p.F82insFs
c.244_245ins4
1 paper
NM_005912.3
p.I83S
c.248T>G
1 paper
NM_005912.3
p.F82V
c.244T>G
1 paper
NM_005912.3
p.F82L
c.244T>C
5 papers
NM_005912.3
p.I83N
c.248T>A
1 paper
NM_005912.3
p.L75_Y80insFs
c.224_240dup17
16 papers
NM_005912.3
p.C84R
c.250T>C
1 paper
NM_005912.3
p.F81V
c.241T>G
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."