Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.F182L

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.F182L
c.546C>G
Surrounding Variants
1 paper
NM_000529.2
p.P183L
c.548C>T
1 paper
NM_000529.2
p.P183insFs
c.548_549insTT
1 paper
NM_000529.2
p.P183P
c.549G>A
1 paper
NM_000529.2
p.L181V
c.541C>G
6 papers
NM_000529.2
p.S180*
c.539C>A
2 papers
NM_000529.2
p.M185L
c.553A>T
1 paper
NM_000529.2
p.V187I
c.559G>A
3 papers
NM_000529.2
p.V187fs
c.559_560fs
1 paper
NM_000529.2
p.V187A
c.560T>C
1 paper
NM_000529.2
p.F178I
c.532T>A
2 papers
NM_000529.2
p.V187fs
c.559_560fs
10 papers
NM_000529.2
p.V187delFs
c.560delA
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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."