Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.Q22delFs

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.Q22delFs
c.64delC
Surrounding Variants
1 paper
NM_019888.3
p.Q22P
c.65A>C
1 paper
NM_019888.3
p.Q22H
c.66A>C
1 paper
NM_019888.3
p.A23D
c.68C>A
1 paper
NM_019888.3
p.E19K
c.55G>A
1 paper
NM_019888.3
p.G17A
c.50G>C
1 paper
NM_019888.3
p.F25insFs
c.74_75insG
1 paper
NM_019888.3
p.N16T
c.47A>C
1 paper
NM_019888.3
p.N16I
c.47A>T
1 paper
NM_019888.3
p.N16H
c.46A>C
1 paper
NM_019888.3
p.S27insFs
c.79_80insA
1 paper
NM_019888.3
p.F26L
c.78C>G
2 papers
NM_019888.3
p.L14M
c.40C>A
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