Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.S99_E100insA

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.S99_E100insA
c.295_299ins3
Surrounding Variants
1 paper
NM_005912.3
p.G98E
c.293G>A
1 paper
NM_005912.3
p.S99delFs
c.296delG
1 paper
NM_005912.3
p.E100*
c.298G>T
1 paper
NM_005912.3
p.E100ins3
c.298_299ins9
32 papers
NM_005912.3
p.G98R
c.292G>C
33 papers
NM_005912.3
p.G98R
c.292G>A
3 papers
NM_005912.3
p.E100K
c.298G>A
1 paper
NM_005912.3
p.S96_N97del2
c.286_290del6
1 paper
NM_005912.3
p.N97K
c.291T>G
1 paper
NM_005912.3
p.N97K
c.291T>A
13 papers
NM_005912.3
p.E100A
c.299A>C
1 paper
NM_005912.3
p.S99_E100ins3
c.297_298ins9
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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."