Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.V253I

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
45 papers
NM_005912.3
p.V253I
c.757G>A
Surrounding Variants
1 paper
NM_005912.3
p.V253A
c.758T>C
1 paper
NM_005912.3
p.V253D
c.758T>A
2 papers
NM_005912.3
p.G252G
c.756C>T
1 paper
NM_005912.3
p.L250_I251insFs
c.750_753dup4
2 papers
NM_005912.3
p.G252A
c.755G>C
3 papers
NM_005912.3
p.G252D
c.755G>A
2 papers
NM_005912.3
p.V253V
c.759C>T
1 paper
NM_005912.3
p.F254L
c.760T>C
1 paper
NM_005912.3
p.F254I
c.760T>A
48 papers
NM_005912.3
p.G252S
c.754G>A
7 papers
NM_005912.3
p.I251fs
c.751_752fs
2 papers
NM_005912.3
p.F254S
c.761T>C
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