Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.M210delFs

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.M210delFs
c.628_629delAT
Surrounding Variants
1 paper
NM_019888.3
p.M210fs
c.628_629fs
1 paper
NM_019888.3
p.F211_L212delFs
c.631_634del4
1 paper
NM_019888.3
p.F211_L212delFs
c.633_636del4
2 papers
NM_019888.3
p.L212F
c.634C>T
1 paper
NM_019888.3
p.L206P
c.617T>C
2 papers
NM_019888.3
p.A214P
c.640G>C
1 paper
NM_019888.3
p.A214V
c.641C>T
1 paper
NM_019888.3
p.R215W
c.643C>T
1 paper
NM_019888.3
p.R215Q
c.644G>A
2 papers
NM_019888.3
p.L202L
c.606C>A
1 paper
NM_019888.3
p.L201L
c.603C>A
1 paper
NM_019888.3
p.V218I
c.652G>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."