Varaico: Literature-Extracted Genetic Variants

Gene:MC5R
Variant:p.D119Y

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.D119Y
c.355G>T
Surrounding Variants
1 paper
NM_005913.3
p.D119A
c.356A>C
1 paper
NM_005913.3
p.D115A
c.344A>C
1 paper
NM_005913.3
p.I114S
c.341T>G
1 paper
NM_005913.3
p.S125P
c.373T>C
1 paper
NM_005913.3
p.V126M
c.376G>A
1 paper
NM_005913.3
p.V126L
c.376G>C
1 paper
NM_005913.3
p.V126L
c.376G>T
1 paper
NM_005913.3
p.A109A
c.327C>A
1 paper
NM_005913.3
p.A109T
c.325G>A
1 paper
NM_005913.3
p.N100Y
c.298A>T
1 paper
NM_005913.3
p.Y141Y
c.423C>T
1 paper
NM_005913.3
p.I144F
c.430A>T
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