Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.A70D

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
4 papers
NM_005912.3
p.A70D
c.209C>A
Surrounding Variants
15 papers
NM_005912.3
p.A70T
c.208G>A
7 papers
NM_005912.3
p.I69M
c.207A>G
1 paper
NM_005912.3
p.I69delFs
c.206delA
17 papers
NM_005912.3
p.I69R
c.206T>G
18 papers
NM_005912.3
p.I69T
c.206T>C
1 paper
NM_005912.3
p.I69K
c.206T>A
2 papers
NM_005912.3
p.K71R
c.212A>G
3 papers
NM_005912.3
p.K71N
c.213G>T
3 papers
NM_005912.3
p.K71N
c.213G>C
1 paper
NM_005912.3
p.I69L
c.205A>T
3 papers
NM_005912.3
p.A68V
c.203C>T
1 paper
NM_005912.3
p.A68E
c.203C>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."