Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.A239S

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.A239S
c.715G>T
Surrounding Variants
2 papers
NM_005912.3
p.A239T
c.715G>A
2 papers
NM_005912.3
p.G238G
c.714T>G
1 paper
NM_005912.3
p.G238G
c.714T>A
1 paper
NM_005912.3
p.A239V
c.716C>T
1 paper
NM_005912.3
p.A239D
c.716C>A
1 paper
NM_005912.3
p.G238V
c.713G>T
1 paper
NM_005912.3
p.G238A
c.713G>C
15 papers
NM_005912.3
p.G238D
c.713G>A
1 paper
NM_005912.3
p.G238C
c.712G>T
2 papers
NM_005912.3
p.G238S
c.712G>A
1 paper
NM_005912.3
p.N240D
c.718A>G
1 paper
NM_005912.3
p.N240H
c.718A>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."