Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.L79M

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
1 paper
NM_000529.2
p.L79M
c.235T>A
Surrounding Variants
3 papers
NM_000529.2
p.E80A
c.239A>C
1 paper
NM_000529.2
p.N81fs
c.241_242fs
1 paper
NM_000529.2
p.K77*
c.229A>T
1 paper
NM_000529.2
p.L75del1
c.223_224delTAG
1 paper
NM_000529.2
p.N81delFs
c.243delA
1 paper
NM_000529.2
p.I82N
c.245T>A
1 paper
NM_000529.2
p.L75insFs
c.223dupC
2 papers
NM_000529.2
p.I82_L83insFs
c.246_247insG
1 paper
NM_000529.2
p.N81_I82delFs
c.243_244delTA
1 paper
NM_000529.2
p.L75L
c.223C>T
1 paper
NM_000529.2
p.L75V
c.223C>G
1 paper
NM_000529.2
p.L83M
c.247C>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."