Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.S4S

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.S4S
c.12C>G
Surrounding Variants
3 papers
NM_005912.3
p.S4F
c.11C>T
3 papers
NM_005912.3
p.S4Y
c.11C>A
4 papers
NM_005912.3
p.T5N
c.14C>A
2 papers
NM_005912.3
p.T5T
c.15C>T
1 paper
NM_005912.3
p.N3N
c.9C>T
1 paper
NM_005912.3
p.T5T
c.15C>G
1 paper
NM_005912.3
p.T5T
c.15C>A
1 paper
NM_005912.3
p.H6insFs
c.16_17insG
1 paper
NM_005912.3
p.N3insFs
c.7_8insG
2 papers
NM_005912.3
p.H6delFs
c.16delG
2 papers
NM_005912.3
p.V2V
c.6G>A
1 paper
NM_005912.3
p.H6Q
c.18C>G
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