Varaico: Literature-Extracted Genetic Variants

Gene:CANT1
Variant:p.P277_P278del2

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.P277_P278del2
c.829_833del6
Surrounding Variants
1 paper
NM_001159773.2
p.G279insFs
c.835_836ins7
1 paper
NM_001159773.2
p.A272V
c.815C>T
1 paper
NM_001159773.2
p.A271V
c.812C>T
2 papers
NM_001159773.2
p.L269delFs
c.805delG
1 paper
NM_001159773.2
p.E260K
c.778G>A
2 papers
NM_001159773.2
p.V257M
c.769G>A
1 paper
NM_001159773.2
p.W247R
c.739T>C
5 papers
NM_001159773.2
p.P245delFs
c.734delG
2 papers
NM_001159773.2
p.P245L
c.734C>T
1 paper
NM_001159773.2
p.P245Q
c.734C>A
1 paper
NM_001159773.2
p.P245fs
c.733_734fs
1 paper
NM_001159773.2
p.N244I
c.731A>T
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