Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.N97K

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.N97K
c.291T>G
Surrounding Variants
1 paper
NM_005912.3
p.N97K
c.291T>A
32 papers
NM_005912.3
p.G98R
c.292G>C
33 papers
NM_005912.3
p.G98R
c.292G>A
1 paper
NM_005912.3
p.S96_N97del2
c.286_290del6
1 paper
NM_005912.3
p.N97S
c.290A>G
1 paper
NM_005912.3
p.G98E
c.293G>A
33 papers
NM_005912.3
p.N97D
c.289A>G
1 paper
NM_005912.3
p.S99_E100insA
c.295_299ins3
1 paper
NM_005912.3
p.S96L
c.287C>T
1 paper
NM_005912.3
p.S99delFs
c.296delG
4 papers
NM_005912.3
p.V95A
c.284T>C
1 paper
NM_005912.3
p.E100*
c.298G>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."