Varaico: Literature-Extracted Genetic Variants

Gene:MC5R
Variant:p.R218Q

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
3 papers
NM_005913.3
p.R218Q
c.653G>A
Surrounding Variants
1 paper
NM_005913.3
p.R213W
c.637C>T
1 paper
NM_005913.3
p.L211_A212delFs
c.633_636del4
10 papers
NM_005913.3
p.F209L
c.627C>A
10 papers
NM_005913.3
p.F209L
c.627C>G
1 paper
NM_005913.3
p.F209S
c.626T>C
10 papers
NM_005913.3
p.F209L
c.625T>C
1 paper
NM_005913.3
p.M208fs
c.622_623fs
1 paper
NM_005913.3
p.M208delFs
c.622_623delAT
1 paper
NM_005913.3
p.T232A
c.694A>G
1 paper
NM_005913.3
p.S203C
c.608C>G
1 paper
NM_005913.3
p.S203F
c.608C>T
1 paper
NM_005913.3
p.Q235K
c.703C>A
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