Varaico: Literature-Extracted Genetic Variants

Gene:CANT1
Variant:p.T184M

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.T184M
c.551C>T
Surrounding Variants
3 papers
NM_001159773.2
p.V186I
c.556G>A
2 papers
NM_001159773.2
p.V187I
c.559G>A
1 paper
NM_001159773.2
p.S179F
c.536C>T
1 paper
NM_001159773.2
p.Y178fs
c.532_533fs
3 papers
NM_001159773.2
p.L177_Y178delFs
c.531_532delAG
1 paper
NM_001159773.2
p.Y178fs
c.532_533fs
1 paper
NM_001159773.2
p.E191G
c.572A>G
1 paper
NM_001159773.2
p.N174I
c.521A>T
1 paper
NM_001159773.2
p.P197A
c.589C>G
2 papers
NM_001159773.2
p.I171F
c.511A>T
2 papers
NM_001159773.2
p.W198*
c.593G>A
2 papers
NM_001159773.2
p.W198*
c.594G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."