Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.F313S

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.F313S
c.938T>C
Surrounding Variants
1 paper
NM_005912.3
p.F313F
c.939C>T
3 papers
NM_005912.3
p.F313fs
c.937_938fs
9 papers
NM_005912.3
p.K314*
c.940A>T
3 papers
NM_005912.3
p.K314E
c.940A>G
1 paper
NM_005912.3
p.T312S
c.935C>G
2 papers
NM_005912.3
p.K314R
c.941A>G
1 paper
NM_005912.3
p.T312S
c.934A>T
3 papers
NM_005912.3
p.T312A
c.934A>G
1 paper
NM_005912.3
p.E315*
c.943G>T
1 paper
NM_005912.3
p.E315_I316insC
c.943_947ins3
1 paper
NM_005912.3
p.K311R
c.932A>G
1 paper
NM_005912.3
p.E315A
c.944A>C
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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."