Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.L69R

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.L69R
c.206T>G
Surrounding Variants
1 paper
NM_019888.3
p.L69P
c.206T>C
1 paper
NM_019888.3
p.H70R
c.209A>G
1 paper
NM_019888.3
p.G67G
c.201C>G
1 paper
NM_019888.3
p.G67S
c.199G>A
1 paper
NM_019888.3
p.P72R
c.215C>G
1 paper
NM_019888.3
p.P72L
c.215C>T
1 paper
NM_019888.3
p.M73K
c.218T>A
1 paper
NM_019888.3
p.Y74N
c.220T>A
1 paper
NM_019888.3
p.Y74*
c.222C>G
1 paper
NM_019888.3
p.V63M
c.187G>A
1 paper
NM_019888.3
p.F76Y
c.227T>A
1 paper
NM_019888.3
p.A62P
c.184G>C
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