Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.V179fs

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.V179fs
c.535_536fs
Surrounding Variants
1 paper
NM_005912.3
p.V179I
c.535G>A
3 papers
NM_005912.3
p.V179A
c.536T>C
1 paper
NM_005912.3
p.V179delFs
c.535delC
12 papers
NM_005912.3
p.T178M
c.533C>T
7 papers
NM_005912.3
p.S180P
c.538T>C
2 papers
NM_005912.3
p.T178A
c.532A>G
1 paper
NM_005912.3
p.S180*
c.539C>G
1 paper
NM_005912.3
p.S180*
c.539C>A
1 paper
NM_005912.3
p.C177*
c.531C>A
1 paper
NM_005912.3
p.C177F
c.530G>T
1 paper
NM_005912.3
p.G181R
c.541G>C
1 paper
NM_005912.3
p.G181V
c.542G>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."