Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.C254S

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.C254S
c.761G>C
Surrounding Variants
1 paper
NM_019888.3
p.C254S
c.760T>A
2 papers
NM_019888.3
p.C254R
c.760T>C
1 paper
NM_019888.3
p.W255*
c.764G>A
1 paper
NM_019888.3
p.W255*
c.765G>A
1 paper
NM_019888.3
p.I252I
c.756C>T
1 paper
NM_019888.3
p.P257T
c.769C>A
2 papers
NM_019888.3
p.P257H
c.770C>A
2 papers
NM_019888.3
p.V250E
c.749T>A
1 paper
NM_019888.3
p.V250_F251delFs
c.750_751delGT
2 papers
NM_019888.3
p.G249S
c.745G>A
1 paper
NM_019888.3
p.L260L
c.780C>G
1 paper
NM_019888.3
p.L247F
c.739C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."