Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.S109C

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.S109C
c.325A>T
Surrounding Variants
1 paper
NM_005912.3
p.S109N
c.326G>A
1 paper
NM_005912.3
p.T110R
c.329C>G
1 paper
NM_005912.3
p.L107V
c.319T>G
1 paper
NM_005912.3
p.I104_L106del3
c.310_317del9
1 paper
NM_005912.3
p.D111N
c.331G>A
1 paper
NM_005912.3
p.D111V
c.332A>T
1 paper
NM_005912.3
p.L106L
c.318A>G
1 paper
NM_005912.3
p.T105_L106insFs
c.315_316insC
2 papers
NM_005912.3
p.D111_T112insFs
c.333_334insA
27 papers
NM_005912.3
p.L106P
c.317T>C
1 paper
NM_005912.3
p.T112fs
c.334_335fs
2 papers
NM_005912.3
p.T112A
c.334A>G
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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."