Varaico: Literature-Extracted Genetic Variants

Gene:TTBK2
Variant:p.N710D

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.N710D
c.2128A>G
Surrounding Variants
1 paper
NM_173500.4
p.V716L
c.2146G>T
1 paper
NM_173500.4
p.V716L
c.2146G>C
1 paper
NM_173500.4
p.G719C
c.2155G>T
1 paper
NM_173500.4
p.G719S
c.2155G>A
1 paper
NM_173500.4
p.S681L
c.2042C>T
1 paper
NM_173500.4
p.T677R
c.2030C>G
1 paper
NM_173500.4
p.P672L
c.2015C>T
1 paper
NM_173500.4
p.D761Y
c.2281G>T
1 paper
NM_173500.4
p.H762H
c.2286T>C
1 paper
NM_173500.4
p.N763S
c.2288A>G
1 paper
NM_173500.4
p.D824H
c.2470G>C
6 papers
NM_173500.4
p.E842G
c.2525A>G
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