Varaico: Literature-Extracted Genetic Variants

Gene:TTBK2

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
1–12 of 155 variants
11 papers
NM_173500.4
p.D163A
c.488A>C
8 papers
NM_173500.4
p.D436delFs
c.1306_1307delTC
8 papers
NM_173500.4
p.V1097A
c.3290T>C
7 papers
NM_173500.4
p.R1110H
c.3329G>A
6 papers
NM_173500.4
p.S428_E429delFs
c.1284_1285delCT
6 papers
NM_173500.4
p.L443_R444insFs
c.1329_1330insA
6 papers
NM_173500.4
p.E842G
c.2525A>G
5 papers
NM_173500.4
p.L8P
c.23T>C
4 papers
NM_173500.4
p.G82A
c.245G>C
4 papers
NM_173500.4
p.T402_E403Fs
c.1205_1207delinsAFs
3 papers
NM_173500.4
p.F80Y
c.239T>A
3 papers
NM_173500.4
p.D436fs
c.1306_1307fs
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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."