Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.S136S

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.S136S
c.408C>T
Surrounding Variants
22 papers
NM_005912.3
p.S136F
c.407C>T
1 paper
NM_005912.3
p.S136C
c.407C>G
1 paper
NM_005912.3
p.S136Y
c.407C>A
1 paper
NM_005912.3
p.I137F
c.409A>T
1 paper
NM_005912.3
p.I137V
c.409A>G
4 papers
NM_005912.3
p.S136A
c.406T>G
35 papers
NM_005912.3
p.I137T
c.410T>C
11 papers
NM_005912.3
p.S136P
c.406T>C
1 paper
NM_005912.3
p.S136T
c.406T>A
2 papers
NM_005912.3
p.A135A
c.405A>G
1 paper
NM_005912.3
p.A135A
c.405A>C
1 paper
NM_005912.3
p.A135G
c.404C>G
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