Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.T248A

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
5 papers
NM_005912.3
p.T248A
c.742A>G
Surrounding Variants
1 paper
NM_005912.3
p.T248S
c.742A>T
1 paper
NM_005912.3
p.T248S
c.743C>G
1 paper
NM_005912.3
p.T246fs
c.736_737fs
5 papers
NM_005912.3
p.T246N
c.737C>A
2 papers
NM_005912.3
p.L250fs
c.748_749fs
1 paper
NM_005912.3
p.T246fs
c.736_737fs
7 papers
NM_005912.3
p.T246A
c.736A>G
5 papers
NM_005912.3
p.A244_I245insFs
c.732_735dup4
1 paper
NM_005912.3
p.L250R
c.749T>G
44 papers
NM_005912.3
p.L250Q
c.749T>A
1 paper
NM_005912.3
p.L250L
c.750G>T
1 paper
NM_005912.3
p.L250L
c.750G>A
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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."