Varaico: Literature-Extracted Genetic Variants

Gene:CANT1
Variant:p.W247R

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
1 paper
NM_001159773.2
p.W247R
c.739T>C
Surrounding Variants
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
1 paper
NM_001159773.2
p.E243K
c.727G>A
2 papers
NM_001159773.2
p.V257M
c.769G>A
1 paper
NM_001159773.2
p.E260K
c.778G>A
1 paper
NM_001159773.2
p.W233C
c.699G>T
1 paper
NM_001159773.2
p.W233C
c.699G>C
1 paper
NM_001159773.2
p.L229L
c.685C>T
3 papers
NM_001159773.2
p.G228_L229insC
c.682_686ins3
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