Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.L202L

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.L202L
c.606C>A
Surrounding Variants
1 paper
NM_019888.3
p.L201L
c.603C>A
1 paper
NM_019888.3
p.L201_G204del0
c.601_612del12
4 papers
NM_019888.3
p.M200V
c.598A>G
1 paper
NM_019888.3
p.L206P
c.617T>C
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.F196L
c.588C>A
1 paper
NM_019888.3
p.F196L
c.588C>G
1 paper
NM_019888.3
p.F196L
c.586T>C
1 paper
NM_019888.3
p.M210delFs
c.628_629delAT
1 paper
NM_019888.3
p.M210fs
c.628_629fs
1 paper
NM_019888.3
p.M195R
c.584T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."