Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.M1I

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
7 papers
NM_000529.2
p.M1I
c.3G>T
Surrounding Variants
8 papers
NM_000529.2
p.M1insFs
c.2_3insT
6 papers
NM_000529.2
p.M1I
c.3G>C
7 papers
NM_000529.2
p.M1I
c.3G>A
12 papers
NM_000529.2
p.M1T
c.2T>C
4 papers
NM_000529.2
p.M1K
c.2T>A
1 paper
NM_000529.2
p.M1delFs
c.1delT
3 papers
NM_000529.2
p.M1V
c.1A>G
3 papers
NM_000529.2
p.H3Y
c.7C>T
1 paper
NM_000529.2
p.K2_H3delFs
c.6_7delGC
1 paper
NM_000529.2
p.I5L
c.13A>C
1 paper
NM_000529.2
p.I5N
c.14T>A
1 paper
NM_000529.2
p.N6fs
c.16_17fs
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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."