Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.C319C

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
2 papers
NM_005912.3
p.C319C
c.957C>T
Surrounding Variants
1 paper
NM_005912.3
p.C319Y
c.956G>A
1 paper
NM_005912.3
p.Y320F
c.959A>T
1 paper
NM_005912.3
p.Y320*
c.960T>G
1 paper
NM_005912.3
p.Y320*
c.960T>A
2 papers
NM_005912.3
p.C318Y
c.953G>A
1 paper
NM_005912.3
p.P321S
c.961C>T
3 papers
NM_005912.3
p.Y320delFs
c.960delA
1 paper
NM_005912.3
p.C318R
c.952T>C
1 paper
NM_005912.3
p.P321L
c.962C>T
1 paper
NM_005912.3
p.I317S
c.950T>G
29 papers
NM_005912.3
p.I317T
c.950T>C
1 paper
NM_005912.3
p.L322V
c.964C>G
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