Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.T5T

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.T5T
c.15C>A
Surrounding Variants
2 papers
NM_005912.3
p.T5T
c.15C>T
1 paper
NM_005912.3
p.T5T
c.15C>G
1 paper
NM_005912.3
p.H6insFs
c.16_17insG
4 papers
NM_005912.3
p.T5N
c.14C>A
2 papers
NM_005912.3
p.H6delFs
c.16delG
1 paper
NM_005912.3
p.H6Q
c.18C>G
1 paper
NM_005912.3
p.S4S
c.12C>G
1 paper
NM_005912.3
p.H6fs
c.16_17fs
1 paper
NM_005912.3
p.H6Q
c.18C>A
14 papers
NM_005912.3
p.R7C
c.19C>T
3 papers
NM_005912.3
p.S4F
c.11C>T
1 paper
NM_005912.3
p.R7_G8insG
c.19_23ins3
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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."