Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.F45S

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
7 papers
NM_019888.3
p.F45S
c.134T>C
Surrounding Variants
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.F45L
c.133T>C
1 paper
NM_019888.3
p.V44D
c.131T>A
9 papers
NM_019888.3
p.V44I
c.130G>A
1 paper
NM_019888.3
p.E43D
c.129G>C
2 papers
NM_019888.3
p.E43K
c.127G>A
1 paper
NM_019888.3
p.L48L
c.142C>T
1 paper
NM_019888.3
p.L48Q
c.143T>A
1 paper
NM_019888.3
p.L48R
c.143T>G
1 paper
NM_019888.3
p.P42insFs
c.124_125ins4
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