Varaico: Literature-Extracted Genetic Variants

Gene:CANT1

CANT1

139 papers

RefSeq Summary

This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase with a preference for UDP. Mutations in this gene are associated with Desbuquois dyspl...

Pfam Domains

Apyraseaa 113–401UCSCApyrase

Gene Aliases

HGNC Name

calcium activated nucleotidase 1

HGNC Alias Symbols

SHAPY; SCAN-1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 151 variants
12 papers
NM_001159773.2
p.R300C
c.898C>T
11 papers
NM_001159773.2
p.V226M
c.676G>A
11 papers
NM_001159773.2
p.R300H
c.899G>A
8 papers
NM_001159773.2
p.L93delFs
c.277_278delAG
7 papers
NM_001159773.2
p.L298_P299insFs
c.894_895ins5
6 papers
NM_001159773.2
p.E215K
c.643G>A
5 papers
NM_001159773.2
p.N76_W77insFs
c.228_229insC
5 papers
NM_001159773.2
p.M165T
c.494T>C
5 papers
NM_001159773.2
p.P245delFs
c.734delG
5 papers
NM_001159773.2
p.P277_P278del2
c.829_833del6
5 papers
NM_001159773.2
p.P299L
c.896C>T
4 papers
NM_001159773.2
p.W125C
c.375G>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."