Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.S74I

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
44 papers
NM_000529.2
p.S74I
c.221G>T
Surrounding Variants
1 paper
NM_000529.2
p.G73delFs
c.219delG
1 paper
NM_000529.2
p.L72_G73del2
c.214_218del6
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.L75insFs
c.223dupC
1 paper
NM_000529.2
p.L75del1
c.223_224delTAG
1 paper
NM_000529.2
p.L72delFs
c.214delG
1 paper
NM_000529.2
p.K77*
c.229A>T
1 paper
NM_000529.2
p.M71T
c.212T>C
1 paper
NM_000529.2
p.M71L
c.211A>T
1 paper
NM_000529.2
p.D70A
c.209A>C
1 paper
NM_000529.2
p.D70_M71insG
c.208_212ins3
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."