Varaico: Literature-Extracted Genetic Variants

Gene:CANT1
Variant:p.D112E

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
3 papers
NM_001159773.2
p.D112E
c.336C>A
Surrounding Variants
3 papers
NM_001159773.2
p.D112E
c.336C>G
2 papers
NM_001159773.2
p.D114N
c.340G>A
1 paper
NM_001159773.2
p.I110V
c.328A>G
1 paper
NM_001159773.2
p.A108delFs
c.324delT
1 paper
NM_001159773.2
p.A108T
c.322G>A
1 paper
NM_001159773.2
p.R106Q
c.317G>A
1 paper
NM_001159773.2
p.I103_R106delFs
c.307_316del10
1 paper
NM_001159773.2
p.R106*
c.316C>T
1 paper
NM_001159773.2
p.Q120fs
c.358_359fs
1 paper
NM_001159773.2
p.Q120L
c.359A>T
2 papers
NM_001159773.2
p.Q120delFs
c.358delG
3 papers
NM_001159773.2
p.W125*
c.374G>A
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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."