Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.M144L

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
2 papers
NM_000529.2
p.M144L
c.430A>T
Surrounding Variants
1 paper
NM_000529.2
p.M144R
c.431T>G
1 paper
NM_000529.2
p.T143T
c.429C>T
1 paper
NM_000529.2
p.T143I
c.428C>T
2 papers
NM_000529.2
p.T143S
c.428C>G
5 papers
NM_000529.2
p.R145C
c.433C>T
1 paper
NM_000529.2
p.R145fs
c.433_434fs
2 papers
NM_000529.2
p.T143S
c.427A>T
2 papers
NM_000529.2
p.T143A
c.427A>G
1 paper
NM_000529.2
p.V142V
c.426G>A
1 paper
NM_000529.2
p.R145delFs
c.433delG
1 paper
NM_000529.2
p.R145fs
c.433_434fs
13 papers
NM_000529.2
p.V142L
c.424G>T
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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."