Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.L48R

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.L48R
c.143T>G
Surrounding Variants
1 paper
NM_019888.3
p.L48Q
c.143T>A
1 paper
NM_019888.3
p.L48L
c.142C>T
1 paper
NM_019888.3
p.G49G
c.147C>T
2 papers
NM_019888.3
p.I50T
c.149T>C
2 papers
NM_019888.3
p.F45L
c.135C>A
2 papers
NM_019888.3
p.F45L
c.135C>G
2 papers
NM_019888.3
p.F45F
c.135C>T
2 papers
NM_019888.3
p.V51L
c.151G>C
7 papers
NM_019888.3
p.F45S
c.134T>C
2 papers
NM_019888.3
p.F45L
c.133T>C
1 paper
NM_019888.3
p.S52G
c.154A>G
1 paper
NM_019888.3
p.V44D
c.131T>A
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