Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.F152S

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
1 paper
NM_005912.3
p.F152S
c.455T>C
Surrounding Variants
2 papers
NM_005912.3
p.I151delFs
c.453delG
2 papers
NM_005912.3
p.F152fs
c.454_455fs
1 paper
NM_005912.3
p.I151I
c.453C>T
3 papers
NM_005912.3
p.I151N
c.452T>A
3 papers
NM_005912.3
p.Y153C
c.458A>G
4 papers
NM_005912.3
p.F149_T150delFs
c.446_450del5
1 paper
NM_005912.3
p.T150T
c.450T>A
1 paper
NM_005912.3
p.A154S
c.460G>T
1 paper
NM_005912.3
p.A154T
c.460G>A
56 papers
NM_005912.3
p.T150I
c.449C>T
1 paper
NM_005912.3
p.A154V
c.461C>T
1 paper
NM_005912.3
p.A154G
c.461C>G
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