Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.V255A

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
5 papers
NM_005912.3
p.V255A
c.764T>C
Surrounding Variants
3 papers
NM_005912.3
p.V255I
c.763G>A
1 paper
NM_005912.3
p.F254L
c.762T>G
1 paper
NM_005912.3
p.F254L
c.762T>A
1 paper
NM_005912.3
p.F254_V255delFs
c.762_765del4
1 paper
NM_005912.3
p.V256G
c.767T>G
2 papers
NM_005912.3
p.F254S
c.761T>C
1 paper
NM_005912.3
p.V256A
c.767T>C
1 paper
NM_005912.3
p.F254L
c.760T>C
1 paper
NM_005912.3
p.F254I
c.760T>A
1 paper
NM_005912.3
p.C257S
c.769T>A
2 papers
NM_005912.3
p.V253V
c.759C>T
1 paper
NM_005912.3
p.V253A
c.758T>C
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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."