Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.C271Y

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
51 papers
NM_005912.3
p.C271Y
c.812G>A
Surrounding Variants
11 papers
NM_005912.3
p.C271F
c.812G>T
31 papers
NM_005912.3
p.C271R
c.811T>C
1 paper
NM_005912.3
p.P272A
c.814C>G
10 papers
NM_005912.3
p.P272L
c.815C>T
3 papers
NM_005912.3
p.S270F
c.809C>T
2 papers
NM_005912.3
p.P272R
c.815C>G
2 papers
NM_005912.3
p.S270C
c.809C>G
1 paper
NM_005912.3
p.S270A
c.808T>G
1 paper
NM_005912.3
p.S270P
c.808T>C
3 papers
NM_005912.3
p.Q273*
c.817C>T
1 paper
NM_005912.3
p.Q273E
c.817C>G
42 papers
NM_005912.3
p.I269N
c.806T>A
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