Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.T232A

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.T232A
c.694A>G
Surrounding Variants
4 papers
NM_005912.3
p.T232S
c.694A>T
4 papers
NM_005912.3
p.T232S
c.695C>G
2 papers
NM_005912.3
p.G231G
c.693C>G
1 paper
NM_005912.3
p.G231fs
c.691_692fs
8 papers
NM_005912.3
p.G231V
c.692G>T
2 papers
NM_005912.3
p.G231D
c.692G>A
31 papers
NM_005912.3
p.G231S
c.691G>A
3 papers
NM_005912.3
p.G233S
c.697G>A
1 paper
NM_005912.3
p.P230delFs
c.690delG
1 paper
NM_005912.3
p.G233V
c.698G>T
1 paper
NM_005912.3
p.G233D
c.698G>A
2 papers
NM_005912.3
p.P230P
c.690C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."