Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.M208V

MC4R

858 papers

RefSeq Summary

The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by...

Pfam Domains

7tm_1aa 61–302UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

melanocortin 4 receptor

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_005912.3
p.M208V
c.622A>G
Surrounding Variants
1 paper
NM_005912.3
p.M208I
c.624G>A
1 paper
NM_005912.3
p.A209T
c.625G>A
8 papers
NM_005912.3
p.L207V
c.619C>G
1 paper
NM_005912.3
p.A209D
c.626C>A
1 paper
NM_005912.3
p.A209A
c.627T>C
1 paper
NM_005912.3
p.A206S
c.616G>T
1 paper
NM_005912.3
p.L205L
c.615G>A
1 paper
NM_005912.3
p.L205Q
c.614T>A
1 paper
NM_005912.3
p.L211V
c.631C>G
2 papers
NM_005912.3
p.L211fs
c.631_632fs
1 paper
NM_005912.3
p.M204del1
c.610_611delCAT
3 papers
NM_005912.3
p.F201_M204del0
c.601_612del12
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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."