Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.N159D

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.N159D
c.475A>G
Surrounding Variants
1 paper
NM_005912.3
p.N159N
c.477C>T
1 paper
NM_005912.3
p.N159K
c.477C>G
1 paper
NM_005912.3
p.N159K
c.477C>A
25 papers
NM_005912.3
p.H158R
c.473A>G
1 paper
NM_005912.3
p.I160T
c.479T>C
3 papers
NM_005912.3
p.I160M
c.480T>G
24 papers
NM_005912.3
p.Y157S
c.470A>C
1 paper
NM_005912.3
p.I160delFs
c.479delA
16 papers
NM_005912.3
p.M161T
c.482T>C
1 paper
NM_005912.3
p.M161K
c.482T>A
2 papers
NM_005912.3
p.Q156Q
c.468G>A
1 paper
NM_005912.3
p.M161I
c.483G>T
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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."