Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.L106P

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
8 papers
NM_019888.3
p.L106P
c.317T>C
Surrounding Variants
1 paper
NM_019888.3
p.L106Q
c.317T>A
1 paper
NM_019888.3
p.Y105*
c.315C>G
1 paper
NM_019888.3
p.F108F
c.324C>T
1 paper
NM_019888.3
p.D104N
c.310G>A
2 papers
NM_019888.3
p.S103N
c.308G>A
1 paper
NM_019888.3
p.E109E
c.327G>A
1 paper
NM_019888.3
p.H102Y
c.304C>T
1 paper
NM_019888.3
p.Q111_F112insFs
c.333_334insA
1 paper
NM_019888.3
p.I113V
c.337A>G
1 paper
NM_019888.3
p.A99_I100ins3
c.297_298ins9
1 paper
NM_019888.3
p.A99T
c.295G>A
1 paper
NM_019888.3
p.I98I
c.294C>T
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