Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.I298V

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.I298V
c.892A>G
Surrounding Variants
1 paper
NM_019888.3
p.I298F
c.892A>T
1 paper
NM_019888.3
p.I298delins
c.892_893delinsTC
1 paper
NM_019888.3
p.I298T
c.893T>C
3 papers
NM_019888.3
p.I298S
c.893T>G
6 papers
NM_019888.3
p.L297V
c.889C>G
1 paper
NM_019888.3
p.I294I
c.882C>T
1 paper
NM_019888.3
p.F301S
c.902T>C
1 paper
NM_019888.3
p.R302W
c.904C>T
2 papers
NM_019888.3
p.V293I
c.877G>A
1 paper
NM_019888.3
p.L304L
c.910C>T
1 paper
NM_019888.3
p.N291S
c.872A>G
1 paper
NM_019888.3
p.E305K
c.913G>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."