Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.G240W

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
5 papers
NM_019888.3
p.G240W
c.718G>T
Surrounding Variants
1 paper
NM_019888.3
p.T243I
c.728C>T
1 paper
NM_019888.3
p.I244V
c.730A>G
2 papers
NM_019888.3
p.T245A
c.733A>G
1 paper
NM_019888.3
p.L247F
c.739C>T
1 paper
NM_019888.3
p.P232A
c.694C>G
1 paper
NM_019888.3
p.P232S
c.694C>T
1 paper
NM_019888.3
p.A231A
c.693C>G
2 papers
NM_019888.3
p.G249S
c.745G>A
1 paper
NM_019888.3
p.A231T
c.691G>A
1 paper
NM_019888.3
p.V250_F251delFs
c.750_751delGT
2 papers
NM_019888.3
p.V250E
c.749T>A
1 paper
NM_019888.3
p.G229W
c.685G>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."