Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.A27_S28insFs

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.A27_S28insFs
c.81_82insA
Surrounding Variants
1 paper
NM_005912.3
p.A27V
c.80C>T
1 paper
NM_005912.3
p.S28C
c.82A>T
1 paper
NM_005912.3
p.S28R
c.82A>C
1 paper
NM_005912.3
p.A27insFs
c.79_80insA
3 papers
NM_005912.3
p.A27T
c.79G>A
1 paper
NM_005912.3
p.S28R
c.84T>G
2 papers
NM_005912.3
p.S28S
c.84T>C
1 paper
NM_005912.3
p.S28R
c.84T>A
1 paper
NM_005912.3
p.N26D
c.76A>G
1 paper
NM_005912.3
p.N26insFs
c.76_77insTA
1 paper
NM_005912.3
p.E29insFs
c.86_87insA
1 paper
NM_005912.3
p.E29E
c.87G>A
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