Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.E184K

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.E184K
c.550G>A
Surrounding Variants
2 papers
NM_019888.3
p.S185C
c.553A>T
1 paper
NM_019888.3
p.V181A
c.542T>C
1 paper
NM_019888.3
p.I189I
c.567T>A
2 papers
NM_019888.3
p.V177M
c.529G>A
1 paper
NM_019888.3
p.C191Y
c.572G>A
1 paper
NM_019888.3
p.C191C
c.573C>T
1 paper
NM_019888.3
p.L192fs
c.574_575fs
2 papers
NM_019888.3
p.V174V
c.522C>T
2 papers
NM_019888.3
p.T194A
c.580A>G
1 paper
NM_019888.3
p.V174I
c.520G>A
1 paper
NM_019888.3
p.M195R
c.584T>G
1 paper
NM_019888.3
p.F196L
c.586T>C
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