Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.V228A

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.V228A
c.683T>C
Surrounding Variants
1 paper
NM_005912.3
p.V228V
c.684C>A
2 papers
NM_005912.3
p.L229F
c.685C>T
2 papers
NM_005912.3
p.A227delins
c.680_681delinsTT
1 paper
NM_005912.3
p.A227delFs
c.679delC
5 papers
NM_005912.3
p.A227T
c.679G>A
1 paper
NM_005912.3
p.P230A
c.688C>G
10 papers
NM_005912.3
p.I226T
c.677T>C
28 papers
NM_005912.3
p.P230L
c.689C>T
2 papers
NM_005912.3
p.P230P
c.690C>T
1 paper
NM_005912.3
p.I226V
c.676A>G
31 papers
NM_005912.3
p.G231S
c.691G>A
1 paper
NM_005912.3
p.P230delFs
c.690delG
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