Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.M204L

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.M204L
c.610A>T
Surrounding Variants
1 paper
NM_005912.3
p.M204L
c.610A>C
1 paper
NM_005912.3
p.M204R
c.611T>G
1 paper
NM_005912.3
p.M204del1
c.610_611delCAT
3 papers
NM_005912.3
p.F201_M204del0
c.601_612del12
2 papers
NM_005912.3
p.T203A
c.607A>G
1 paper
NM_005912.3
p.T203P
c.607A>C
1 paper
NM_005912.3
p.L205Q
c.614T>A
43 papers
NM_005912.3
p.F202L
c.606C>G
44 papers
NM_005912.3
p.F202L
c.606C>A
1 paper
NM_005912.3
p.L205L
c.615G>A
43 papers
NM_005912.3
p.F202L
c.604T>C
1 paper
NM_005912.3
p.A206S
c.616G>T
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