Varaico: Literature-Extracted Genetic Variants

Gene:TTBK2
Variant:p.F32L

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.F32L
c.96T>A
Surrounding Variants
1 paper
NM_173500.4
p.I27T
c.80T>C
1 paper
NM_173500.4
p.V23_L24Splc
c.70-7T>C
2 papers
NM_173500.4
p.K50E
c.148A>G
1 paper
NM_173500.4
p.V51insFs
c.151_152insT
1 paper
NM_173500.4
p.Q59H
c.177A>T
1 paper
NM_173500.4
p.V60L
c.178G>C
1 paper
NM_173500.4
p.K62E
c.184A>G
1 paper
NM_173500.4
p.V65A
c.194T>C
1 paper
NM_173500.4
p.V13A
c.38T>C
1 paper
NM_173500.4
p.D9fs
c.25_26fs
5 papers
NM_173500.4
p.L8P
c.23T>C
2 papers
NM_173500.4
p.G3E
c.8G>A
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