Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.R128C

MC2R

286 papers

RefSeq Summary

MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from ...

Pfam Domains

7tm_1aa 41–276UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

melanocortin 2 receptor

HGNC Alias Symbol

ACTHR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
27 papers
NM_000529.2
p.R128C
c.382C>T
Surrounding Variants
2 papers
NM_000529.2
p.R128H
c.383G>A
1 paper
NM_000529.2
p.D127delFs
c.379delC
1 paper
NM_000529.2
p.A126A
c.378G>A
5 papers
NM_000529.2
p.Y129C
c.386A>G
4 papers
NM_000529.2
p.A126S
c.376G>T
10 papers
NM_000529.2
p.I130N
c.389T>A
1 paper
NM_000529.2
p.A125T
c.373G>A
2 papers
NM_000529.2
p.T131A
c.391A>G
1 paper
NM_000529.2
p.V123M
c.367G>A
1 paper
NM_000529.2
p.S122delFs
c.365delG
1 paper
NM_000529.2
p.S122C
c.365C>G
20 papers
NM_000529.2
p.S120R
c.360C>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."