Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.I69delFs

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.I69delFs
c.206delA
Surrounding Variants
7 papers
NM_005912.3
p.I69M
c.207A>G
17 papers
NM_005912.3
p.I69R
c.206T>G
18 papers
NM_005912.3
p.I69T
c.206T>C
1 paper
NM_005912.3
p.I69K
c.206T>A
15 papers
NM_005912.3
p.A70T
c.208G>A
4 papers
NM_005912.3
p.A70D
c.209C>A
1 paper
NM_005912.3
p.I69L
c.205A>T
3 papers
NM_005912.3
p.A68V
c.203C>T
1 paper
NM_005912.3
p.A68E
c.203C>A
1 paper
NM_005912.3
p.A68delFs
c.202delC
1 paper
NM_005912.3
p.A68S
c.202G>T
1 paper
NM_005912.3
p.A68T
c.202G>A
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