Varaico: Literature-Extracted Genetic Variants

Gene:MC5R
Variant:p.A237T

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
4 papers
NM_005913.3
p.A237T
c.709G>A
Surrounding Variants
1 paper
NM_005913.3
p.T239A
c.715A>G
1 paper
NM_005913.3
p.Q235K
c.703C>A
1 paper
NM_005913.3
p.T232A
c.694A>G
1 paper
NM_005913.3
p.T248A
c.742A>G
1 paper
NM_005913.3
p.T248T
c.744C>T
1 paper
NM_005913.3
p.V249V
c.747G>A
2 papers
NM_005913.3
p.P253L
c.758C>T
1 paper
NM_005913.3
p.F254L
c.762C>G
3 papers
NM_005913.3
p.R218Q
c.653G>A
1 paper
NM_005913.3
p.T259A
c.775A>G
1 paper
NM_005913.3
p.R213W
c.637C>T
1 paper
NM_005913.3
p.L211_A212delFs
c.633_636del4
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