Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.G233V

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.G233V
c.698G>T
Surrounding Variants
1 paper
NM_005912.3
p.G233D
c.698G>A
3 papers
NM_005912.3
p.G233S
c.697G>A
1 paper
NM_005912.3
p.A234T
c.700G>A
1 paper
NM_005912.3
p.A234V
c.701C>T
4 papers
NM_005912.3
p.T232S
c.695C>G
4 papers
NM_005912.3
p.T232S
c.694A>T
2 papers
NM_005912.3
p.T232A
c.694A>G
2 papers
NM_005912.3
p.G231G
c.693C>G
1 paper
NM_005912.3
p.G231fs
c.691_692fs
2 papers
NM_005912.3
p.A234delFs
c.702delG
1 paper
NM_005912.3
p.I235T
c.704T>C
8 papers
NM_005912.3
p.G231V
c.692G>T
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