Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.S127L

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
84 papers
NM_005912.3
p.S127L
c.380C>T
Surrounding Variants
4 papers
NM_005912.3
p.S127A
c.379T>G
3 papers
NM_005912.3
p.V128L
c.382G>T
3 papers
NM_005912.3
p.V128L
c.382G>C
1 paper
NM_005912.3
p.D126D
c.378C>T
7 papers
NM_005912.3
p.D126E
c.378C>G
7 papers
NM_005912.3
p.D126E
c.378C>A
4 papers
NM_005912.3
p.V128A
c.383T>C
2 papers
NM_005912.3
p.V128delFs
c.382delC
13 papers
NM_005912.3
p.D126A
c.377A>C
13 papers
NM_005912.3
p.D126Y
c.376G>T
2 papers
NM_005912.3
p.D126N
c.376G>A
1 paper
NM_005912.3
p.I125S
c.374T>G
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