Varaico: Literature-Extracted Genetic Variants

Gene:CANT1
Variant:p.M165T

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
5 papers
NM_001159773.2
p.M165T
c.494T>C
Surrounding Variants
1 paper
NM_001159773.2
p.M165V
c.493A>G
1 paper
NM_001159773.2
p.S168A
c.502T>G
1 paper
NM_001159773.2
p.G162W
c.484G>T
2 papers
NM_001159773.2
p.D169N
c.505G>A
2 papers
NM_001159773.2
p.I171F
c.511A>T
4 papers
NM_001159773.2
p.S156F
c.467C>T
1 paper
NM_001159773.2
p.N174I
c.521A>T
1 paper
NM_001159773.2
p.V153I
c.457G>A
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.S179F
c.536C>T
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