Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.F45L

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.F45L
c.133T>C
Surrounding Variants
1 paper
NM_005912.3
p.F45L
c.135T>G
3 papers
NM_005912.3
p.L44P
c.131T>C
1 paper
NM_005912.3
p.F45L
c.135T>A
1 paper
NM_005912.3
p.L44H
c.131T>A
1 paper
NM_005912.3
p.L44F
c.130C>T
1 paper
NM_005912.3
p.L44V
c.130C>G
7 papers
NM_005912.3
p.L44I
c.130C>A
1 paper
NM_005912.3
p.V46A
c.137T>C
7 papers
NM_005912.3
p.Q43Q
c.129A>G
3 papers
NM_005912.3
p.V46V
c.138C>A
1 paper
NM_005912.3
p.S47_P48insG
c.139_143ins3
11 papers
NM_005912.3
p.Q43*
c.127C>T
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