Varaico: Literature-Extracted Genetic Variants

Gene:MC5R

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
1–12 of 97 variants
10 papers
NM_005913.3
p.F209L
c.625T>C
10 papers
NM_005913.3
p.F209L
c.627C>A
10 papers
NM_005913.3
p.F209L
c.627C>G
4 papers
NM_005913.3
p.A237T
c.709G>A
4 papers
NM_005913.3
p.T305I
c.914C>T
3 papers
NM_005913.3
p.A79A
c.237A>T
3 papers
NM_005913.3
p.T93T
c.279C>A
3 papers
NM_005913.3
p.R218Q
c.653G>A
2 papers
NM_005913.3
p.L14M
c.40C>A
2 papers
NM_005913.3
p.P253L
c.758C>T
2 papers
NM_005913.3
p.R272C
c.814C>T
1 paper
NM_005913.3
p.M1insFs
c.2dupT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."