Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.D327E

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.D327E
c.981C>G
Surrounding Variants
2 papers
NM_005912.3
p.D327E
c.981C>A
9 papers
NM_005912.3
p.L328*
c.983T>A
1 paper
NM_005912.3
p.D327N
c.979G>A
1 paper
NM_005912.3
p.C326*
c.978T>A
3 papers
NM_005912.3
p.S329A
c.985T>G
1 paper
NM_005912.3
p.S329P
c.985T>C
5 papers
NM_005912.3
p.C326delFs
c.976delA
13 papers
NM_005912.3
p.C326R
c.976T>C
1 paper
NM_005912.3
p.C326fs
c.976_977fs
1 paper
NM_005912.3
p.S329F
c.986C>T
1 paper
NM_005912.3
p.L325P
c.974T>C
1 paper
NM_005912.3
p.S330N
c.989G>A
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