Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.I186I

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
2 papers
NM_005912.3
p.I186I
c.558T>A
Surrounding Variants
2 papers
NM_005912.3
p.Y187H
c.559T>C
1 paper
NM_005912.3
p.I186delFs
c.556delT
7 papers
NM_005912.3
p.I186V
c.556A>G
1 paper
NM_005912.3
p.Y187C
c.560A>G
3 papers
NM_005912.3
p.S188A
c.562T>G
4 papers
NM_005912.3
p.S188L
c.563C>T
4 papers
NM_005912.3
p.I185F
c.553A>T
3 papers
NM_005912.3
p.F184L
c.552C>G
3 papers
NM_005912.3
p.F184L
c.552C>A
1 paper
NM_005912.3
p.F184S
c.551T>C
2 papers
NM_005912.3
p.D189N
c.565G>A
1 paper
NM_005912.3
p.F184V
c.550T>G
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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."