Varaico: Literature-Extracted Genetic Variants

Gene:CANT1
Variant:p.L229L

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.L229L
c.685C>T
Surrounding Variants
3 papers
NM_001159773.2
p.G228_L229insC
c.682_686ins3
1 paper
NM_001159773.2
p.G228S
c.682G>A
11 papers
NM_001159773.2
p.V226M
c.676G>A
3 papers
NM_001159773.2
p.L224P
c.671T>C
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.V219M
c.655G>A
2 papers
NM_001159773.2
p.E215*
c.643G>T
6 papers
NM_001159773.2
p.E215K
c.643G>A
1 paper
NM_001159773.2
p.E243K
c.727G>A
1 paper
NM_001159773.2
p.K213N
c.639G>T
1 paper
NM_001159773.2
p.K213N
c.639G>C
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