Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.D84E

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
8 papers
NM_019888.3
p.D84E
c.252C>G
Surrounding Variants
8 papers
NM_019888.3
p.D84E
c.252C>A
1 paper
NM_019888.3
p.D84N
c.250G>A
1 paper
NM_019888.3
p.L86L
c.256C>T
1 paper
NM_019888.3
p.A83P
c.247G>C
1 paper
NM_019888.3
p.L86P
c.257T>C
2 papers
NM_019888.3
p.V82E
c.245T>A
2 papers
NM_019888.3
p.V82A
c.245T>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.A81A
c.243G>A
23 papers
NM_019888.3
p.A81T
c.241G>A
1 paper
NM_019888.3
p.A81P
c.241G>C
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