Varaico: Literature-Extracted Genetic Variants

Gene:CANT1
Variant:p.P299L

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
5 papers
NM_001159773.2
p.P299L
c.896C>T
Surrounding Variants
12 papers
NM_001159773.2
p.R300C
c.898C>T
11 papers
NM_001159773.2
p.R300H
c.899G>A
1 paper
NM_001159773.2
p.A302T
c.904G>A
1 paper
NM_001159773.2
p.A302_S303insFs
c.906_907ins5
4 papers
NM_001159773.2
p.A302_S303insFs
c.906_907ins5
4 papers
NM_001159773.2
p.S303fs
c.907_908fs
4 papers
NM_001159773.2
p.S303R
c.907A>C
7 papers
NM_001159773.2
p.L298_P299insFs
c.894_895ins5
4 papers
NM_001159773.2
p.S303R
c.909C>G
3 papers
NM_001159773.2
p.S303fs
c.907_908fs
4 papers
NM_001159773.2
p.S303R
c.909C>A
3 papers
NM_001159773.2
p.Q304insFs
c.911_912ins5
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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."