Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.L211del1

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
2 papers
NM_005912.3
p.L211del1
c.631_632delGAG
Surrounding Variants
3 papers
NM_005912.3
p.Y212fs
c.634_635fs
4 papers
NM_005912.3
p.L211fs
c.631_632fs
5 papers
NM_005912.3
p.L211_Y212delFs
c.631_634del4
1 paper
NM_005912.3
p.Y212fs
c.634_635fs
7 papers
NM_005912.3
p.L211P
c.632T>C
2 papers
NM_005912.3
p.Y212Y
c.636T>C
7 papers
NM_005912.3
p.V213F
c.637G>T
4 papers
NM_005912.3
p.L211_Y212delFs
c.633_636del4
1 paper
NM_005912.3
p.L211V
c.631C>G
2 papers
NM_005912.3
p.L211fs
c.631_632fs
1 paper
NM_005912.3
p.V213A
c.638T>C
1 paper
NM_005912.3
p.A209A
c.627T>C
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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."