Varaico: Literature-Extracted Genetic Variants

Gene:CANT1
Variant:p.R106Q

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.R106Q
c.317G>A
Surrounding Variants
1 paper
NM_001159773.2
p.I103_R106delFs
c.307_316del10
1 paper
NM_001159773.2
p.R106*
c.316C>T
1 paper
NM_001159773.2
p.A108T
c.322G>A
1 paper
NM_001159773.2
p.A108delFs
c.324delT
1 paper
NM_001159773.2
p.I110V
c.328A>G
3 papers
NM_001159773.2
p.D112E
c.336C>G
3 papers
NM_001159773.2
p.D112E
c.336C>A
2 papers
NM_001159773.2
p.D114N
c.340G>A
3 papers
NM_001159773.2
p.L93fs
c.277_278fs
8 papers
NM_001159773.2
p.L93delFs
c.277_278delAG
2 papers
NM_001159773.2
p.L93fs
c.277_278fs
1 paper
NM_001159773.2
p.P92P
c.276C>T
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