Varaico: Literature-Extracted Genetic Variants

Gene:TTBK2
Variant:p.E404_N406insFs

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
2 papers
NM_173500.4
p.E404_N406insFs
c.1211_1217dup7
Surrounding Variants
1 paper
NM_173500.4
p.N406fs
c.1216_1217fs
1 paper
NM_173500.4
p.N406fs
c.1216_1217fs
1 paper
NM_173500.4
p.E403D
c.1209A>T
1 paper
NM_173500.4
p.E403D
c.1209A>C
1 paper
NM_173500.4
p.E403delins
c.1207delinsA
4 papers
NM_173500.4
p.T402_E403Fs
c.1205_1207delinsAFs
2 papers
NM_173500.4
p.T402fs
c.1204_1205fs
2 papers
NM_173500.4
p.T402fs
c.1204_1205fs
1 paper
NM_173500.4
p.S428insFs
c.1284dupA
2 papers
NM_173500.4
p.E429fs
c.1285_1286fs
2 papers
NM_173500.4
p.E429fs
c.1285_1286fs
6 papers
NM_173500.4
p.S428_E429delFs
c.1284_1285delCT
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