Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.T162I

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
23 papers
NM_005912.3
p.T162I
c.485C>T
Surrounding Variants
8 papers
NM_005912.3
p.T162R
c.485C>G
2 papers
NM_005912.3
p.T162A
c.484A>G
1 paper
NM_005912.3
p.M161I
c.483G>T
1 paper
NM_005912.3
p.M161I
c.483G>C
2 papers
NM_005912.3
p.V163I
c.487G>A
1 paper
NM_005912.3
p.M161I
c.483G>A
1 paper
NM_005912.3
p.M161delFs
c.482delA
1 paper
NM_005912.3
p.M161delFs
c.481_482delAT
16 papers
NM_005912.3
p.M161T
c.482T>C
1 paper
NM_005912.3
p.V163A
c.488T>C
1 paper
NM_005912.3
p.M161K
c.482T>A
1 paper
NM_005912.3
p.V163V
c.489T>C
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