Varaico: Literature-Extracted Genetic Variants

Gene:MC5R
Variant:p.K65*

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.K65*
c.193A>T
Surrounding Variants
1 paper
NM_005913.3
p.S69C
c.206C>G
1 paper
NM_005913.3
p.V57V
c.171C>T
1 paper
NM_005913.3
p.V57delFs
c.171delC
1 paper
NM_005913.3
p.I55N
c.164T>A
1 paper
NM_005913.3
p.A79V
c.236C>T
3 papers
NM_005913.3
p.A79A
c.237A>T
1 paper
NM_005913.3
p.I49I
c.147C>T
1 paper
NM_005913.3
p.A81T
c.241G>A
1 paper
NM_005913.3
p.A81A
c.243G>A
1 paper
NM_005913.3
p.M83K
c.248T>A
1 paper
NM_005913.3
p.T45A
c.133A>G
1 paper
NM_005913.3
p.L44I
c.130C>A
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