Varaico: Literature-Extracted Genetic Variants

Gene:CANT1
Variant:p.V145L

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.V145L
c.433G>C
Surrounding Variants
4 papers
NM_001159773.2
p.V145L
c.433G>T
1 paper
NM_001159773.2
p.V145M
c.433G>A
1 paper
NM_001159773.2
p.E146E
c.438A>G
1 paper
NM_001159773.2
p.V153I
c.457G>A
1 paper
NM_001159773.2
p.L136fs
c.406_407fs
1 paper
NM_001159773.2
p.L136delFs
c.407delA
4 papers
NM_001159773.2
p.S156F
c.467C>T
2 papers
NM_001159773.2
p.K131R
c.392A>G
1 paper
NM_001159773.2
p.G162W
c.484G>T
4 papers
NM_001159773.2
p.W125C
c.375G>T
4 papers
NM_001159773.2
p.W125C
c.375G>C
2 papers
NM_001159773.2
p.W125*
c.375G>A
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