Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.L77H

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.L77H
c.230T>A
Surrounding Variants
1 paper
NM_019888.3
p.C78S
c.232T>A
1 paper
NM_019888.3
p.C78G
c.232T>G
1 paper
NM_019888.3
p.F76Y
c.227T>A
1 paper
NM_019888.3
p.C78*
c.234C>A
1 paper
NM_019888.3
p.Y74*
c.222C>G
1 paper
NM_019888.3
p.Y74N
c.220T>A
23 papers
NM_019888.3
p.A81T
c.241G>A
1 paper
NM_019888.3
p.A81P
c.241G>C
1 paper
NM_019888.3
p.M73K
c.218T>A
1 paper
NM_019888.3
p.A81A
c.243G>A
1 paper
NM_019888.3
p.P72R
c.215C>G
1 paper
NM_019888.3
p.P72L
c.215C>T
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