Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.M1T

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
4 papers
NM_005912.3
p.M1T
c.2T>C
Surrounding Variants
1 paper
NM_005912.3
p.M1insFs
c.1dupA
1 paper
NM_005912.3
p.M1R
c.2T>G
1 paper
NM_005912.3
p.M1K
c.2T>A
1 paper
NM_005912.3
p.M1delFs
c.1delT
3 papers
NM_005912.3
p.M1I
c.3G>T
1 paper
NM_005912.3
p.M1_V2insFs
c.3_4insT
3 papers
NM_005912.3
p.M1I
c.3G>C
6 papers
NM_005912.3
p.M1I
c.3G>A
6 papers
NM_005912.3
p.M1V
c.1A>G
2 papers
NM_005912.3
p.V2G
c.5T>G
2 papers
NM_005912.3
p.V2V
c.6G>A
1 paper
NM_005912.3
p.N3insFs
c.7_8insG
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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."