Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.L106L

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.L106L
c.318A>G
Surrounding Variants
1 paper
NM_005912.3
p.T105_L106insFs
c.315_316insC
1 paper
NM_005912.3
p.L107V
c.319T>G
27 papers
NM_005912.3
p.L106P
c.317T>C
1 paper
NM_005912.3
p.I104_L106del3
c.310_317del9
1 paper
NM_005912.3
p.T105T
c.315C>T
2 papers
NM_005912.3
p.T105I
c.314C>T
1 paper
NM_005912.3
p.T105A
c.313A>G
1 paper
NM_005912.3
p.I104T
c.311T>C
1 paper
NM_005912.3
p.S109C
c.325A>T
1 paper
NM_005912.3
p.S109N
c.326G>A
2 papers
NM_005912.3
p.I104V
c.310A>G
1 paper
NM_005912.3
p.I104L
c.310A>C
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."