Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.H14Q

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.H14Q
c.42C>G
Surrounding Variants
1 paper
NM_005912.3
p.H14H
c.42C>T
1 paper
NM_005912.3
p.H14Q
c.42C>A
3 papers
NM_005912.3
p.L15F
c.43C>T
2 papers
NM_005912.3
p.H14N
c.40C>A
1 paper
NM_005912.3
p.W16G
c.46T>G
1 paper
NM_005912.3
p.L13P
c.38T>C
1 paper
NM_005912.3
p.W16S
c.47G>C
27 papers
NM_005912.3
p.W16*
c.47G>A
1 paper
NM_005912.3
p.L13V
c.37C>G
28 papers
NM_005912.3
p.W16*
c.48G>A
1 paper
NM_005912.3
p.S12delFs
c.34delA
1 paper
NM_005912.3
p.N17fs
c.49_50fs
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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."