Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.C315R

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
2 papers
NM_019888.3
p.C315R
c.943T>C
Surrounding Variants
1 paper
NM_019888.3
p.C315G
c.943T>G
1 paper
NM_019888.3
p.L314F
c.940C>T
1 paper
NM_019888.3
p.G316S
c.946G>A
1 paper
NM_019888.3
p.T309T
c.927C>T
1 paper
NM_019888.3
p.M320I
c.960G>A
1 paper
NM_019888.3
p.M320I
c.960G>C
1 paper
NM_019888.3
p.M320I
c.960G>T
1 paper
NM_019888.3
p.N308D
c.922A>G
1 paper
NM_019888.3
p.R307H
c.920G>A
1 paper
NM_019888.3
p.R307S
c.919C>A
2 papers
NM_019888.3
p.R307C
c.919C>T
1 paper
NM_019888.3
p.G323E
c.968G>A
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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."