Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.F262delFs

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
4 papers
NM_005912.3
p.F262delFs
c.785delA
Surrounding Variants
3 papers
NM_005912.3
p.F262L
c.786C>G
3 papers
NM_005912.3
p.F262L
c.786C>A
1 paper
NM_005912.3
p.F262S
c.785T>C
2 papers
NM_005912.3
p.L263V
c.787C>G
1 paper
NM_005912.3
p.L263I
c.787C>A
3 papers
NM_005912.3
p.F262L
c.784T>C
1 paper
NM_005912.3
p.L263P
c.788T>C
1 paper
NM_005912.3
p.L263H
c.788T>A
3 papers
NM_005912.3
p.F262fs
c.784_785fs
2 papers
NM_005912.3
p.F261L
c.783C>G
2 papers
NM_005912.3
p.F261L
c.783C>A
21 papers
NM_005912.3
p.F261S
c.782T>C
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