Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.C172R

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
10 papers
NM_005912.3
p.C172R
c.514T>C
Surrounding Variants
1 paper
NM_005912.3
p.C172S
c.514T>A
1 paper
NM_005912.3
p.C172S
c.515G>C
2 papers
NM_005912.3
p.S171I
c.512G>T
1 paper
NM_005912.3
p.S171T
c.512G>C
3 papers
NM_005912.3
p.I170del1
c.508_509delTAT
2 papers
NM_005912.3
p.S171G
c.511A>G
1 paper
NM_005912.3
p.I173T
c.518T>C
1 paper
NM_005912.3
p.I173N
c.518T>A
1 paper
NM_005912.3
p.I170I
c.510A>C
2 papers
NM_005912.3
p.I169_I170del1
c.507_509delATG
1 paper
NM_005912.3
p.I173I
c.519C>T
1 paper
NM_005912.3
p.I173M
c.519C>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."