Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.A259V

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
8 papers
NM_005912.3
p.A259V
c.776C>T
Surrounding Variants
2 papers
NM_005912.3
p.A259G
c.776C>G
4 papers
NM_005912.3
p.A259D
c.776C>A
1 paper
NM_005912.3
p.A259T
c.775G>A
4 papers
NM_005912.3
p.W258*
c.774G>A
4 papers
NM_005912.3
p.P260A
c.778C>G
2 papers
NM_005912.3
p.P260T
c.778C>A
1 paper
NM_005912.3
p.W258L
c.773G>T
1 paper
NM_005912.3
p.W258S
c.773G>C
4 papers
NM_005912.3
p.W258*
c.773G>A
1 paper
NM_005912.3
p.P260L
c.779C>T
20 papers
NM_005912.3
p.P260Q
c.779C>A
1 paper
NM_005912.3
p.F261V
c.781T>G
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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."