Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.H264H

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.H264H
c.792C>T
Surrounding Variants
2 papers
NM_005912.3
p.H264R
c.791A>G
1 paper
NM_005912.3
p.H264Y
c.790C>T
1 paper
NM_005912.3
p.L263P
c.788T>C
1 paper
NM_005912.3
p.L263H
c.788T>A
1 paper
NM_005912.3
p.I266L
c.796A>T
1 paper
NM_005912.3
p.I266V
c.796A>G
1 paper
NM_005912.3
p.I266L
c.796A>C
2 papers
NM_005912.3
p.I266T
c.797T>C
1 paper
NM_005912.3
p.I266K
c.797T>A
2 papers
NM_005912.3
p.L263V
c.787C>G
1 paper
NM_005912.3
p.L263I
c.787C>A
3 papers
NM_005912.3
p.F262L
c.786C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."