Varaico: Literature-Extracted Genetic Variants

Gene:CANT1
Variant:p.N352N

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.N352N
c.1056C>T
Surrounding Variants
2 papers
NM_001159773.2
p.D355N
c.1063G>A
1 paper
NM_001159773.2
p.I358T
c.1073T>C
1 paper
NM_001159773.2
p.S346F
c.1037C>T
3 papers
NM_001159773.2
p.A360D
c.1079C>A
1 paper
NM_001159773.2
p.G343V
c.1028G>T
1 paper
NM_001159773.2
p.V335Fs
c.1003delinsGAFs
1 paper
NM_001159773.2
p.S333T
c.998G>C
2 papers
NM_001159773.2
p.I374N
c.1121T>A
2 papers
NM_001159773.2
p.M375L
c.1123A>T
2 papers
NM_001159773.2
p.M375L
c.1123A>C
1 paper
NM_001159773.2
p.M375I
c.1125G>T
1 paper
NM_001159773.2
p.M375I
c.1125G>C
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