Varaico: Literature-Extracted Genetic Variants

Gene:TTBK2
Variant:p.C83W

TTBK2

137 papers

RefSeq Summary

This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease ch...

Pfam Domains

Pkinaseaa 21–276UCSCProtein kinase domain

Gene Aliases

HGNC Name

tau tubulin kinase 2

HGNC Previous Symbol

SCA11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173500.4
p.C83W
c.249T>G
Surrounding Variants
4 papers
NM_173500.4
p.G82A
c.245G>C
3 papers
NM_173500.4
p.F80Y
c.239T>A
1 paper
NM_173500.4
p.V92M
c.274G>A
1 paper
NM_173500.4
p.L96F
c.288G>T
1 paper
NM_173500.4
p.L96F
c.288G>C
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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."