Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.A244S

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
1 paper
NM_005912.3
p.A244S
c.730G>T
Surrounding Variants
7 papers
NM_005912.3
p.A244V
c.731C>T
4 papers
NM_005912.3
p.A244G
c.731C>G
34 papers
NM_005912.3
p.A244E
c.731C>A
1 paper
NM_005912.3
p.G243A
c.728G>C
1 paper
NM_005912.3
p.A244A
c.732G>A
1 paper
NM_005912.3
p.G243*
c.727G>T
3 papers
NM_005912.3
p.G243R
c.727G>C
4 papers
NM_005912.3
p.G243R
c.727G>A
2 papers
NM_005912.3
p.I245insFs
c.733_734ins4
2 papers
NM_005912.3
p.K242N
c.726G>T
2 papers
NM_005912.3
p.K242N
c.726G>C
1 paper
NM_005912.3
p.K242M
c.725A>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."