Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.V103I

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
215 papers
NM_005912.3
p.V103I
c.307G>A
Surrounding Variants
2 papers
NM_005912.3
p.V103L
c.307G>C
4 papers
NM_005912.3
p.V103fs
c.307_308fs
1 paper
NM_005912.3
p.V103D
c.308T>A
33 papers
NM_005912.3
p.I102S
c.305T>G
31 papers
NM_005912.3
p.I102T
c.305T>C
4 papers
NM_005912.3
p.I102N
c.305T>A
3 papers
NM_005912.3
p.V103delFs
c.308delA
3 papers
NM_005912.3
p.I102V
c.304A>G
2 papers
NM_005912.3
p.I104V
c.310A>G
1 paper
NM_005912.3
p.I104L
c.310A>C
1 paper
NM_005912.3
p.I104T
c.311T>C
3 papers
NM_005912.3
p.T101I
c.302C>T
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