Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.S36T

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
10 papers
NM_005912.3
p.S36T
c.106T>A
Surrounding Variants
1 paper
NM_005912.3
p.S36P
c.106T>C
2 papers
NM_005912.3
p.Y35Y
c.105C>T
1 paper
NM_005912.3
p.S36F
c.107C>T
76 papers
NM_005912.3
p.Y35*
c.105C>G
77 papers
NM_005912.3
p.Y35*
c.105C>A
8 papers
NM_005912.3
p.S36Y
c.107C>A
1 paper
NM_005912.3
p.Y35_S36del1
c.104_106delAGT
11 papers
NM_005912.3
p.Y35C
c.104A>G
1 paper
NM_005912.3
p.Y35S
c.104A>C
1 paper
NM_005912.3
p.G34fs
c.100_101fs
62 papers
NM_005912.3
p.D37V
c.110A>T
3 papers
NM_005912.3
p.D37G
c.110A>G
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