Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.I317T

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
29 papers
NM_005912.3
p.I317T
c.950T>C
Surrounding Variants
1 paper
NM_005912.3
p.I317S
c.950T>G
3 papers
NM_005912.3
p.I317F
c.949A>T
14 papers
NM_005912.3
p.I317V
c.949A>G
1 paper
NM_005912.3
p.C318R
c.952T>C
37 papers
NM_005912.3
p.I316S
c.947T>G
5 papers
NM_005912.3
p.I316T
c.947T>C
2 papers
NM_005912.3
p.C318Y
c.953G>A
1 paper
NM_005912.3
p.C319Y
c.956G>A
1 paper
NM_005912.3
p.E315A
c.944A>C
1 paper
NM_005912.3
p.E315*
c.943G>T
1 paper
NM_005912.3
p.E315_I316insC
c.943_947ins3
2 papers
NM_005912.3
p.C319C
c.957C>T
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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."