Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.E94A

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.E94A
c.281A>C
Surrounding Variants
1 paper
NM_019888.3
p.E94K
c.280G>A
1 paper
NM_019888.3
p.L93_E94insFs
c.279_280insGT
2 papers
NM_019888.3
p.L93R
c.278T>G
2 papers
NM_019888.3
p.L93M
c.277C>A
1 paper
NM_019888.3
p.M97V
c.289A>G
1 paper
NM_019888.3
p.N91D
c.271A>G
1 paper
NM_019888.3
p.M97I
c.291G>A
1 paper
NM_019888.3
p.M97I
c.291G>C
1 paper
NM_019888.3
p.M97I
c.291G>T
1 paper
NM_019888.3
p.S90Y
c.269C>A
1 paper
NM_019888.3
p.I98_V101Fs
c.293_301delinsACFs
1 paper
NM_019888.3
p.I98I
c.294C>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."