Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.F117C

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
2 papers
NM_005912.3
p.F117C
c.350T>G
Surrounding Variants
1 paper
NM_005912.3
p.F117I
c.349T>A
3 papers
NM_005912.3
p.S116delFs
c.346_347delCT
1 paper
NM_005912.3
p.S116N
c.347G>A
1 paper
NM_005912.3
p.S116fs
c.346_347fs
1 paper
NM_005912.3
p.Q115H
c.345G>T
1 paper
NM_005912.3
p.Q115fs
c.343_344fs
1 paper
NM_005912.3
p.Q115H
c.345G>C
3 papers
NM_005912.3
p.Q115delFs
c.343_344delTG
2 papers
NM_005912.3
p.V119A
c.356T>C
2 papers
NM_005912.3
p.Q115*
c.343C>T
2 papers
NM_005912.3
p.N120D
c.358A>G
2 papers
NM_005912.3
p.A114V
c.341C>T
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