Varaico: Literature-Extracted Genetic Variants

Gene:TTBK2
Variant:p.D163A

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
11 papers
NM_173500.4
p.D163A
c.488A>C
Surrounding Variants
1 paper
NM_173500.4
p.R168P
c.503G>C
1 paper
NM_173500.4
p.C156Y
c.467G>A
1 paper
NM_173500.4
p.P153S
c.457C>T
1 paper
NM_173500.4
p.R151_F152insT
c.451_455ins3
1 paper
NM_173500.4
p.S173_G175delFs
c.519_525del7
1 paper
NM_173500.4
p.V177I
c.529G>A
2 papers
NM_173500.4
p.K143E
c.427A>G
2 papers
NM_173500.4
p.R110*
c.328C>T
1 paper
NM_173500.4
p.Q108H
c.324G>T
1 paper
NM_173500.4
p.Q108H
c.324G>C
1 paper
NM_173500.4
p.R99R
c.297G>A
1 paper
NM_173500.4
p.R99Q
c.296G>A
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