Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.N17fs

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.N17fs
c.49_50fs
Surrounding Variants
6 papers
NM_005912.3
p.W16_N17insFs
c.48_49insG
28 papers
NM_005912.3
p.W16*
c.48G>A
1 paper
NM_005912.3
p.W16S
c.47G>C
27 papers
NM_005912.3
p.W16*
c.47G>A
1 paper
NM_005912.3
p.W16G
c.46T>G
26 papers
NM_005912.3
p.R18C
c.52C>T
3 papers
NM_005912.3
p.R18G
c.52C>G
1 paper
NM_005912.3
p.R18S
c.52C>A
10 papers
NM_005912.3
p.R18L
c.53G>T
15 papers
NM_005912.3
p.R18H
c.53G>A
3 papers
NM_005912.3
p.L15F
c.43C>T
5 papers
NM_005912.3
p.S19fs
c.55_56fs
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