Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.I125V

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.I125V
c.373A>G
Surrounding Variants
1 paper
NM_005912.3
p.I125F
c.373A>T
4 papers
NM_005912.3
p.I125L
c.373A>C
1 paper
NM_005912.3
p.I125S
c.374T>G
2 papers
NM_005912.3
p.I125N
c.374T>A
1 paper
NM_005912.3
p.V124V
c.372C>T
2 papers
NM_005912.3
p.V124A
c.371T>C
1 paper
NM_005912.3
p.V124D
c.371T>A
13 papers
NM_005912.3
p.D126Y
c.376G>T
1 paper
NM_005912.3
p.V124L
c.370G>C
2 papers
NM_005912.3
p.D126N
c.376G>A
1 paper
NM_005912.3
p.V124I
c.370G>A
13 papers
NM_005912.3
p.D126A
c.377A>C
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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."