Varaico: Literature-Extracted Genetic Variants

Gene:MC5R
Variant:p.G37G

MC5R

101 papers

RefSeq Summary

This gene encodes a member of the seven-pass transmembrane G protein-coupled melanocortin receptor protein family that stimulate cAMP signal transduction. The encoded protein is a receptor for melanoc...

Pfam Domains

7tm_1aa 53–295UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

melanocortin 5 receptor

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005913.3
p.G37G
c.111C>T
Surrounding Variants
1 paper
NM_005913.3
p.E41A
c.122A>C
1 paper
NM_005913.3
p.P32S
c.94C>T
1 paper
NM_005913.3
p.L44I
c.130C>A
1 paper
NM_005913.3
p.L44V
c.130C>G
1 paper
NM_005913.3
p.T45A
c.133A>G
1 paper
NM_005913.3
p.K29insFs
c.86_87insA
1 paper
NM_005913.3
p.K27insFs
c.79_80insA
1 paper
NM_005913.3
p.I49I
c.147C>T
1 paper
NM_005913.3
p.N25insFs
c.74_75insG
1 paper
NM_005913.3
p.S22S
c.66A>C
1 paper
NM_005913.3
p.I55N
c.164T>A
1 paper
NM_005913.3
p.V57delFs
c.171delC
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