Varaico: Literature-Extracted Genetic Variants

Gene:CANT1
Variant:p.A53A

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
2 papers
NM_001159773.2
p.A53A
c.159T>C
Surrounding Variants
1 paper
NM_001159773.2
p.A53T
c.157G>A
1 paper
NM_001159773.2
p.L59P
c.176T>C
1 paper
NM_001159773.2
p.H62P
c.185A>C
1 paper
NM_001159773.2
p.P64S
c.190C>T
1 paper
NM_001159773.2
p.P64L
c.191C>T
1 paper
NM_001159773.2
p.R42H
c.125G>A
1 paper
NM_001159773.2
p.R42C
c.124C>T
1 paper
NM_001159773.2
p.G67R
c.199G>C
1 paper
NM_001159773.2
p.P69S
c.205C>T
1 paper
NM_001159773.2
p.P69L
c.206C>T
2 papers
NM_001159773.2
p.T71P
c.211A>C
1 paper
NM_001159773.2
p.A34V
c.101C>T
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