Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.K219N

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.K219N
c.657G>T
Surrounding Variants
9 papers
NM_019888.3
p.R220S
c.658C>A
1 paper
NM_019888.3
p.V218A
c.653T>C
1 paper
NM_019888.3
p.V218I
c.652G>A
1 paper
NM_019888.3
p.A222E
c.665C>A
1 paper
NM_019888.3
p.R215Q
c.644G>A
1 paper
NM_019888.3
p.R215W
c.643C>T
1 paper
NM_019888.3
p.L224P
c.671T>C
1 paper
NM_019888.3
p.A214V
c.641C>T
2 papers
NM_019888.3
p.A214P
c.640G>C
1 paper
NM_019888.3
p.P226P
c.678T>A
1 paper
NM_019888.3
p.A227delFs
c.679delG
2 papers
NM_019888.3
p.L212F
c.634C>T
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