Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.P275S

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
16 papers
NM_005912.3
p.P275S
c.823C>T
Surrounding Variants
33 papers
NM_005912.3
p.N274S
c.821A>G
1 paper
NM_005912.3
p.Q273H
c.819G>T
1 paper
NM_005912.3
p.Q273H
c.819G>C
4 papers
NM_005912.3
p.Y276C
c.827A>G
1 paper
NM_005912.3
p.Y276fs
c.826_827fs
2 papers
NM_005912.3
p.Y276*
c.828T>G
1 paper
NM_005912.3
p.Y276Y
c.828T>C
2 papers
NM_005912.3
p.Y276*
c.828T>A
1 paper
NM_005912.3
p.Q273R
c.818A>G
3 papers
NM_005912.3
p.Q273P
c.818A>C
1 paper
NM_005912.3
p.C277G
c.829T>G
3 papers
NM_005912.3
p.Q273*
c.817C>T
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