Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.M292delFs

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.M292delFs
c.875delA
Surrounding Variants
1 paper
NM_005912.3
p.M292fs
c.874_875fs
5 papers
NM_005912.3
p.I291del1
c.871_872delGAT
4 papers
NM_005912.3
p.C293R
c.877T>C
1 paper
NM_005912.3
p.M292T
c.875T>C
3 papers
NM_005912.3
p.C293Y
c.878G>A
2 papers
NM_005912.3
p.M292_C293del1
c.875_877delACA
1 paper
NM_005912.3
p.I291insFs
c.872_873insC
1 paper
NM_005912.3
p.I291S
c.872T>G
1 paper
NM_005912.3
p.N294D
c.880A>G
2 papers
NM_005912.3
p.N294H
c.880A>C
1 paper
NM_005912.3
p.I291fs
c.871_872fs
1 paper
NM_005912.3
p.I291F
c.871A>T
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