Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.F51L

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
24 papers
NM_005912.3
p.F51L
c.153T>A
Surrounding Variants
24 papers
NM_005912.3
p.F51L
c.153T>G
2 papers
NM_005912.3
p.F51C
c.152T>G
1 paper
NM_005912.3
p.V52L
c.154G>T
1 paper
NM_005912.3
p.V52L
c.154G>C
1 paper
NM_005912.3
p.V52M
c.154G>A
25 papers
NM_005912.3
p.F51L
c.151T>C
5 papers
NM_005912.3
p.V52A
c.155T>C
1 paper
NM_005912.3
p.V52E
c.155T>A
1 paper
NM_005912.3
p.F51fs
c.151_152fs
1 paper
NM_005912.3
p.V50insFs
c.149dupT
1 paper
NM_005912.3
p.V52V
c.156G>C
2 papers
NM_005912.3
p.V50G
c.149T>G
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