Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.I251T

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
4 papers
NM_005912.3
p.I251T
c.752T>C
Surrounding Variants
13 papers
NM_005912.3
p.L250_I251delFs
c.750_751delTC
7 papers
NM_005912.3
p.I251fs
c.751_752fs
3 papers
NM_005912.3
p.I251fs
c.751_752fs
4 papers
NM_005912.3
p.I251F
c.751A>T
1 paper
NM_005912.3
p.I251V
c.751A>G
146 papers
NM_005912.3
p.I251L
c.751A>C
1 paper
NM_005912.3
p.L250L
c.750G>T
48 papers
NM_005912.3
p.G252S
c.754G>A
1 paper
NM_005912.3
p.L250L
c.750G>A
1 paper
NM_005912.3
p.L250R
c.749T>G
44 papers
NM_005912.3
p.L250Q
c.749T>A
1 paper
NM_005912.3
p.L250_I251insFs
c.750_753dup4
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