Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.N91D

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.N91D
c.271A>G
Surrounding Variants
1 paper
NM_019888.3
p.S90Y
c.269C>A
2 papers
NM_019888.3
p.L93M
c.277C>A
2 papers
NM_019888.3
p.L93R
c.278T>G
1 paper
NM_019888.3
p.L93_E94insFs
c.279_280insGT
1 paper
NM_019888.3
p.E94K
c.280G>A
1 paper
NM_019888.3
p.E94A
c.281A>C
2 papers
NM_019888.3
p.V87E
c.260T>A
1 paper
NM_019888.3
p.V87A
c.260T>C
1 paper
NM_019888.3
p.L86P
c.257T>C
1 paper
NM_019888.3
p.L86L
c.256C>T
1 paper
NM_019888.3
p.M97V
c.289A>G
8 papers
NM_019888.3
p.D84E
c.252C>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."