Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.Y35*

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
77 papers
NM_005912.3
p.Y35*
c.105C>A
Surrounding Variants
2 papers
NM_005912.3
p.Y35Y
c.105C>T
76 papers
NM_005912.3
p.Y35*
c.105C>G
1 paper
NM_005912.3
p.S36P
c.106T>C
10 papers
NM_005912.3
p.S36T
c.106T>A
11 papers
NM_005912.3
p.Y35C
c.104A>G
1 paper
NM_005912.3
p.Y35S
c.104A>C
1 paper
NM_005912.3
p.S36F
c.107C>T
8 papers
NM_005912.3
p.S36Y
c.107C>A
1 paper
NM_005912.3
p.Y35_S36del1
c.104_106delAGT
1 paper
NM_005912.3
p.G34fs
c.100_101fs
7 papers
NM_005912.3
p.G34A
c.101G>C
1 paper
NM_005912.3
p.G34D
c.101G>A
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