Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.V50G

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
2 papers
NM_005912.3
p.V50G
c.149T>G
Surrounding Variants
1 paper
NM_005912.3
p.V50A
c.149T>C
3 papers
NM_005912.3
p.V50L
c.148G>T
1 paper
NM_005912.3
p.V50insFs
c.149dupT
3 papers
NM_005912.3
p.V50L
c.148G>C
29 papers
NM_005912.3
p.V50M
c.148G>A
25 papers
NM_005912.3
p.F51L
c.151T>C
1 paper
NM_005912.3
p.F51fs
c.151_152fs
1 paper
NM_005912.3
p.E49E
c.147G>A
2 papers
NM_005912.3
p.F51C
c.152T>G
1 paper
NM_005912.3
p.E49A
c.146A>C
24 papers
NM_005912.3
p.F51L
c.153T>G
24 papers
NM_005912.3
p.F51L
c.153T>A
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."