Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.L23Q

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.L23Q
c.68T>A
Surrounding Variants
7 papers
NM_005912.3
p.L23R
c.68T>G
2 papers
NM_005912.3
p.R22S
c.66A>C
1 paper
NM_005912.3
p.R22delFs
c.64delT
6 papers
NM_005912.3
p.Y21_R22delFs
c.63_64delTG
6 papers
NM_005912.3
p.R22*
c.64A>T
1 paper
NM_005912.3
p.Y21Y
c.63C>T
6 papers
NM_005912.3
p.Y21*
c.63C>G
6 papers
NM_005912.3
p.Y21*
c.63C>A
1 paper
NM_005912.3
p.S25G
c.73A>G
1 paper
NM_005912.3
p.S25R
c.73A>C
1 paper
NM_005912.3
p.S25N
c.74G>A
1 paper
NM_005912.3
p.Y21C
c.62A>G
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