Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.T150S

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.T150S
c.449C>G
Surrounding Variants
56 papers
NM_005912.3
p.T150I
c.449C>T
3 papers
NM_005912.3
p.T150delFs
c.448delT
1 paper
NM_005912.3
p.T150T
c.450T>A
1 paper
NM_005912.3
p.T150S
c.448A>T
4 papers
NM_005912.3
p.T150A
c.448A>G
2 papers
NM_005912.3
p.F149fs
c.445_446fs
4 papers
NM_005912.3
p.F149_T150delFs
c.446_450del5
3 papers
NM_005912.3
p.I151N
c.452T>A
1 paper
NM_005912.3
p.F149I
c.445T>A
1 paper
NM_005912.3
p.F149fs
c.445_446fs
1 paper
NM_005912.3
p.I151I
c.453C>T
2 papers
NM_005912.3
p.I151delFs
c.453delG
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