Varaico: Literature-Extracted Genetic Variants

Gene:CANT1
Variant:p.V3V

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
Selected Variant
2 papers
NM_001159773.2
p.V3V
c.9G>A
Surrounding Variants
1 paper
NM_001159773.2
p.Q4H
c.12G>C
1 paper
NM_001159773.2
p.M1_P2insFs
c.3_4insA
1 paper
NM_001159773.2
p.R19W
c.55C>T
3 papers
NM_001159773.2
p.R19Q
c.56G>A
2 papers
NM_001159773.2
p.S21G
c.61A>G
2 papers
NM_001159773.2
p.A34Fs
c.100delinsTTFs
1 paper
NM_001159773.2
p.A34fs
c.100_101fs
1 paper
NM_001159773.2
p.A34V
c.101C>T
1 paper
NM_001159773.2
p.R42C
c.124C>T
1 paper
NM_001159773.2
p.R42H
c.125G>A
1 paper
NM_001159773.2
p.A53T
c.157G>A
2 papers
NM_001159773.2
p.A53A
c.159T>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."