Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.I301T

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
29 papers
NM_005912.3
p.I301T
c.902T>C
Surrounding Variants
2 papers
NM_005912.3
p.I301V
c.901A>G
1 paper
NM_005912.3
p.I301L
c.901A>C
2 papers
NM_005912.3
p.Y302D
c.904T>G
9 papers
NM_005912.3
p.L300P
c.899T>C
14 papers
NM_005912.3
p.Y302F
c.905A>T
1 paper
NM_005912.3
p.Y302C
c.905A>G
2 papers
NM_005912.3
p.Y302*
c.906T>G
2 papers
NM_005912.3
p.Y302*
c.906T>A
10 papers
NM_005912.3
p.A303P
c.907G>C
12 papers
NM_005912.3
p.A303T
c.907G>A
9 papers
NM_005912.3
p.P299L
c.896C>T
47 papers
NM_005912.3
p.P299H
c.896C>A
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