Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.I57I

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
2 papers
NM_005912.3
p.I57I
c.171C>T
Surrounding Variants
36 papers
NM_005912.3
p.S58C
c.172A>T
1 paper
NM_005912.3
p.S58G
c.172A>G
5 papers
NM_005912.3
p.I57delFs
c.171delG
1 paper
NM_005912.3
p.I57V
c.169A>G
1 paper
NM_005912.3
p.I57L
c.169A>C
1 paper
NM_005912.3
p.V56V
c.168C>T
2 papers
NM_005912.3
p.S58fs
c.172_173fs
1 paper
NM_005912.3
p.V56A
c.167T>C
1 paper
NM_005912.3
p.L59ins1
c.176_177insGGG
1 paper
NM_005912.3
p.L59S
c.176T>C
2 papers
NM_005912.3
p.L60M
c.178T>A
10 papers
NM_005912.3
p.G55V
c.164G>T
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