Varaico: Literature-Extracted Genetic Variants

Gene:MC5R
Variant:p.A164V

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.A164V
c.491C>T
Surrounding Variants
1 paper
NM_005913.3
p.R158H
c.473G>A
1 paper
NM_005913.3
p.T171A
c.511A>G
1 paper
NM_005913.3
p.I153T
c.458T>C
1 paper
NM_005913.3
p.L148P
c.443T>C
1 paper
NM_005913.3
p.S183F
c.548C>T
1 paper
NM_005913.3
p.I144F
c.430A>T
1 paper
NM_005913.3
p.Y185Y
c.555C>T
1 paper
NM_005913.3
p.V186A
c.557T>C
1 paper
NM_005913.3
p.Y141Y
c.423C>T
1 paper
NM_005913.3
p.A196D
c.587C>A
1 paper
NM_005913.3
p.L200F
c.598C>T
1 paper
NM_005913.3
p.V126M
c.376G>A
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