Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.H10H

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.H10H
c.30C>T
Surrounding Variants
19 papers
NM_005912.3
p.T11S
c.31A>T
28 papers
NM_005912.3
p.T11A
c.31A>G
1 paper
NM_005912.3
p.H10R
c.29A>G
1 paper
NM_005912.3
p.H10delFs
c.28delG
3 papers
NM_005912.3
p.T11I
c.32C>T
1 paper
NM_005912.3
p.H10Y
c.28C>T
20 papers
NM_005912.3
p.T11S
c.32C>G
1 paper
NM_005912.3
p.T11T
c.33T>G
1 paper
NM_005912.3
p.M9T
c.26T>C
1 paper
NM_005912.3
p.S12delFs
c.34delA
1 paper
NM_005912.3
p.M9L
c.25A>T
5 papers
NM_005912.3
p.G8G
c.24G>A
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