Varaico: Literature-Extracted Genetic Variants

Gene:CANT1
Variant:p.W86*

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.W86*
c.257G>A
Surrounding Variants
1 paper
NM_001159773.2
p.W86*
c.258G>A
1 paper
NM_001159773.2
p.N88D
c.262A>G
1 paper
NM_001159773.2
p.P83P
c.249C>T
1 paper
NM_001159773.2
p.P92P
c.276C>T
2 papers
NM_001159773.2
p.L93fs
c.277_278fs
3 papers
NM_001159773.2
p.L93fs
c.277_278fs
8 papers
NM_001159773.2
p.L93delFs
c.277_278delAG
1 paper
NM_001159773.2
p.W77fs
c.229_230fs
5 papers
NM_001159773.2
p.N76_W77insFs
c.228_229insC
1 paper
NM_001159773.2
p.W77fs
c.229_230fs
1 paper
NM_001159773.2
p.A74T
c.220G>A
2 papers
NM_001159773.2
p.T71P
c.211A>C
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