Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.A154insFs

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.A154insFs
c.461dupC
Surrounding Variants
1 paper
NM_005912.3
p.A154V
c.461C>T
1 paper
NM_005912.3
p.A154G
c.461C>G
22 papers
NM_005912.3
p.A154D
c.461C>A
1 paper
NM_005912.3
p.L155R
c.464T>G
1 paper
NM_005912.3
p.A154S
c.460G>T
1 paper
NM_005912.3
p.A154T
c.460G>A
11 papers
NM_005912.3
p.Q156*
c.466C>T
1 paper
NM_005912.3
p.Q156K
c.466C>A
3 papers
NM_005912.3
p.Y153C
c.458A>G
10 papers
NM_005912.3
p.Q156R
c.467A>G
10 papers
NM_005912.3
p.Q156P
c.467A>C
2 papers
NM_005912.3
p.Q156Q
c.468G>A
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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."