Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.T101S

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.T101S
c.302C>G
Surrounding Variants
3 papers
NM_005912.3
p.T101I
c.302C>T
11 papers
NM_005912.3
p.T101N
c.302C>A
1 paper
NM_005912.3
p.T101S
c.301A>T
8 papers
NM_005912.3
p.T101A
c.301A>G
1 paper
NM_005912.3
p.G98_T101Fs
c.293_301delinsACFs
3 papers
NM_005912.3
p.I102V
c.304A>G
33 papers
NM_005912.3
p.I102S
c.305T>G
31 papers
NM_005912.3
p.I102T
c.305T>C
4 papers
NM_005912.3
p.I102N
c.305T>A
13 papers
NM_005912.3
p.E100A
c.299A>C
1 paper
NM_005912.3
p.S99_E100ins3
c.297_298ins9
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."