Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.Q114L

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.Q114L
c.341A>T
Surrounding Variants
1 paper
NM_019888.3
p.I113V
c.337A>G
1 paper
NM_019888.3
p.H115Q
c.345C>G
1 paper
NM_019888.3
p.Q111_F112insFs
c.333_334insA
1 paper
NM_019888.3
p.D117A
c.350A>C
1 paper
NM_019888.3
p.E109E
c.327G>A
1 paper
NM_019888.3
p.F108F
c.324C>T
2 papers
NM_019888.3
p.D121N
c.361G>A
2 papers
NM_019888.3
p.D121Y
c.361G>T
2 papers
NM_019888.3
p.D121A
c.362A>C
1 paper
NM_019888.3
p.D121E
c.363C>A
1 paper
NM_019888.3
p.D121E
c.363C>G
1 paper
NM_019888.3
p.L106Q
c.317T>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."