Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.M195R

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.M195R
c.584T>G
Surrounding Variants
1 paper
NM_019888.3
p.F196L
c.586T>C
2 papers
NM_019888.3
p.T194A
c.580A>G
1 paper
NM_019888.3
p.F196L
c.588C>A
1 paper
NM_019888.3
p.F196L
c.588C>G
1 paper
NM_019888.3
p.L192fs
c.574_575fs
1 paper
NM_019888.3
p.A198A
c.594C>T
1 paper
NM_019888.3
p.M200del1
c.598_599delATG
1 paper
NM_019888.3
p.C191C
c.573C>T
1 paper
NM_019888.3
p.C191Y
c.572G>A
4 papers
NM_019888.3
p.M200V
c.598A>G
1 paper
NM_019888.3
p.L201_G204del0
c.601_612del12
1 paper
NM_019888.3
p.I189I
c.567T>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."