Varaico: Literature-Extracted Genetic Variants

Gene:MC5R
Variant:p.E92A

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.E92A
c.275A>C
Surrounding Variants
1 paper
NM_005913.3
p.E92K
c.274G>A
1 paper
NM_005913.3
p.T93A
c.277A>G
3 papers
NM_005913.3
p.T93T
c.279C>A
1 paper
NM_005913.3
p.N100Y
c.298A>T
1 paper
NM_005913.3
p.M83K
c.248T>A
1 paper
NM_005913.3
p.A81A
c.243G>A
1 paper
NM_005913.3
p.A81T
c.241G>A
3 papers
NM_005913.3
p.A79A
c.237A>T
1 paper
NM_005913.3
p.A79V
c.236C>T
1 paper
NM_005913.3
p.A109T
c.325G>A
1 paper
NM_005913.3
p.A109A
c.327C>A
1 paper
NM_005913.3
p.I114S
c.341T>G
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