Varaico: Literature-Extracted Genetic Variants

Gene:CANT1
Variant:p.F327L

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.F327L
c.979T>C
Surrounding Variants
1 paper
NM_001159773.2
p.F327L
c.981C>G
1 paper
NM_001159773.2
p.F327L
c.981C>A
2 papers
NM_001159773.2
p.A323T
c.967G>A
1 paper
NM_001159773.2
p.S333T
c.998G>C
1 paper
NM_001159773.2
p.V335Fs
c.1003delinsGAFs
1 paper
NM_001159773.2
p.Y307_G316del10
c.919_947del30
2 papers
NM_001159773.2
p.K315*
c.943A>T
1 paper
NM_001159773.2
p.E313*
c.937G>T
1 paper
NM_001159773.2
p.D312Y
c.934G>T
1 paper
NM_001159773.2
p.G343V
c.1028G>T
1 paper
NM_001159773.2
p.S308N
c.923G>A
1 paper
NM_001159773.2
p.S346F
c.1037C>T
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