Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.V88_L92del0

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.V88_L92del0
c.262_276del15
Surrounding Variants
16 papers
NM_005912.3
p.S94R
c.280A>C
2 papers
NM_005912.3
p.V93_S94insFs
c.279_280insGT
15 papers
NM_005912.3
p.S94N
c.281G>A
1 paper
NM_005912.3
p.S94S
c.282C>T
16 papers
NM_005912.3
p.S94R
c.282C>G
17 papers
NM_005912.3
p.S94R
c.282C>A
2 papers
NM_005912.3
p.V95F
c.283G>T
35 papers
NM_005912.3
p.V95I
c.283G>A
1 paper
NM_005912.3
p.V93M
c.277G>A
4 papers
NM_005912.3
p.V95A
c.284T>C
1 paper
NM_005912.3
p.L92L
c.276G>T
1 paper
NM_005912.3
p.L92L
c.276G>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."