Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.Y143*

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.Y143*
c.429C>G
Surrounding Variants
2 papers
NM_019888.3
p.Y143*
c.429C>A
1 paper
NM_019888.3
p.Y143Y
c.429C>T
1 paper
NM_019888.3
p.V144F
c.430G>T
1 paper
NM_019888.3
p.V144A
c.431T>C
1 paper
NM_019888.3
p.D141D
c.423C>T
3 papers
NM_019888.3
p.I146N
c.437T>A
1 paper
NM_019888.3
p.F147del1
c.439_440delTTT
1 paper
NM_019888.3
p.A149T
c.445G>A
1 paper
NM_019888.3
p.A149_L150delFs
c.446_450del5
1 paper
NM_019888.3
p.A137T
c.409G>A
1 paper
NM_019888.3
p.L150H
c.449T>A
9 papers
NM_019888.3
p.R151C
c.451C>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."