Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.L64*

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
5 papers
NM_005912.3
p.L64*
c.191T>G
Surrounding Variants
5 papers
NM_005912.3
p.L64*
c.191T>A
1 paper
NM_005912.3
p.L64I
c.190T>A
1 paper
NM_005912.3
p.L64F
c.192A>T
1 paper
NM_005912.3
p.L64F
c.192A>C
3 papers
NM_005912.3
p.I63_L64del2
c.187_191del6
2 papers
NM_005912.3
p.I63T
c.188T>C
3 papers
NM_005912.3
p.V65E
c.194T>A
1 paper
NM_005912.3
p.I63F
c.187A>T
1 paper
NM_005912.3
p.N62N
c.186T>C
1 paper
NM_005912.3
p.I66V
c.196A>G
2 papers
NM_005912.3
p.I66T
c.197T>C
42 papers
NM_005912.3
p.N62S
c.185A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."