Varaico: Literature-Extracted Genetic Variants

Gene:MC5R
Variant:p.P292S

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.P292S
c.874C>T
Surrounding Variants
1 paper
NM_005913.3
p.D291N
c.871G>A
1 paper
NM_005913.3
p.S288S
c.864C>T
1 paper
NM_005913.3
p.R298L
c.893G>T
1 paper
NM_005913.3
p.R298_S299insFs
c.894_895ins7
1 paper
NM_005913.3
p.S299fs
c.895_896fs
1 paper
NM_005913.3
p.S299insFs
c.895_896ins7
1 paper
NM_005913.3
p.M285V
c.853A>G
1 paper
NM_005913.3
p.Q300fs
c.898_899fs
1 paper
NM_005913.3
p.L283L
c.849C>G
1 paper
NM_005913.3
p.L281F
c.841C>T
1 paper
NM_005913.3
p.T305A
c.913A>G
4 papers
NM_005913.3
p.T305I
c.914C>T
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