Varaico: Literature-Extracted Genetic Variants

Gene:TTBK2
Variant:p.D434insFs

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.D434insFs
c.1302dupC
Surrounding Variants
1 paper
NM_173500.4
p.R435fs
c.1303_1304fs
2 papers
NM_173500.4
p.P433_R435delFs
c.1297_1304del8
3 papers
NM_173500.4
p.D436fs
c.1306_1307fs
1 paper
NM_173500.4
p.D436fs
c.1306_1307fs
8 papers
NM_173500.4
p.D436delFs
c.1306_1307delTC
6 papers
NM_173500.4
p.S428_E429delFs
c.1284_1285delCT
2 papers
NM_173500.4
p.E429fs
c.1285_1286fs
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.R444fs
c.1330_1331fs
6 papers
NM_173500.4
p.L443_R444insFs
c.1329_1330insA
3 papers
NM_173500.4
p.R444fs
c.1330_1331fs
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