Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.C268_P269insFs

MC3R

234 papers

RefSeq Summary

This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes. This gene ...

Pfam Domains

7tm_1aa 55–299UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

melanocortin 3 receptor

HGNC Alias Symbol

MC3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019888.3
p.C268_P269insFs
c.804_805insG
Surrounding Variants
1 paper
NM_019888.3
p.P269R
c.806C>G
1 paper
NM_019888.3
p.T267T
c.801C>G
1 paper
NM_019888.3
p.N271Y
c.811A>T
2 papers
NM_019888.3
p.P272A
c.814C>G
1 paper
NM_019888.3
p.P272L
c.815C>T
2 papers
NM_019888.3
p.C274S
c.820T>A
2 papers
NM_019888.3
p.C274S
c.821G>C
1 paper
NM_019888.3
p.L262V
c.784C>G
1 paper
NM_019888.3
p.C276F
c.827G>T
1 paper
NM_019888.3
p.L260L
c.780C>G
2 papers
NM_019888.3
p.P257H
c.770C>A
1 paper
NM_019888.3
p.P257T
c.769C>A
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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."