Varaico: Literature-Extracted Genetic Variants

Gene:CANT1
Variant:p.R42H

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.R42H
c.125G>A
Surrounding Variants
1 paper
NM_001159773.2
p.R42C
c.124C>T
1 paper
NM_001159773.2
p.A34V
c.101C>T
2 papers
NM_001159773.2
p.A34Fs
c.100delinsTTFs
1 paper
NM_001159773.2
p.A34fs
c.100_101fs
1 paper
NM_001159773.2
p.A53T
c.157G>A
2 papers
NM_001159773.2
p.A53A
c.159T>C
1 paper
NM_001159773.2
p.L59P
c.176T>C
1 paper
NM_001159773.2
p.H62P
c.185A>C
2 papers
NM_001159773.2
p.S21G
c.61A>G
1 paper
NM_001159773.2
p.P64S
c.190C>T
1 paper
NM_001159773.2
p.P64L
c.191C>T
3 papers
NM_001159773.2
p.R19Q
c.56G>A
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