Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.I198I

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.I198I
c.594C>T
Surrounding Variants
2 papers
NM_005912.3
p.I198T
c.593T>C
2 papers
NM_005912.3
p.T199A
c.595A>G
1 paper
NM_005912.3
p.I198V
c.592A>G
1 paper
NM_005912.3
p.L197R
c.590T>G
25 papers
NM_005912.3
p.M200V
c.598A>G
1 paper
NM_005912.3
p.M200T
c.599T>C
2 papers
NM_005912.3
p.T199_M200del1
c.597_599delATG
1 paper
NM_005912.3
p.C196*
c.588C>A
14 papers
NM_005912.3
p.F201L
c.601T>C
1 paper
NM_005912.3
p.F201I
c.601T>A
5 papers
NM_005912.3
p.M200del1
c.598_599delCAT
4 papers
NM_005912.3
p.C196Y
c.587G>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."