Varaico: Literature-Extracted Genetic Variants

Gene:TTBK2
Variant:p.K1138E

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.K1138E
c.3412A>G
Surrounding Variants
1 paper
NM_173500.4
p.K1138*
c.3412A>T
1 paper
NM_173500.4
p.P1140S
c.3418C>T
1 paper
NM_173500.4
p.N1136D
c.3406A>G
1 paper
NM_173500.4
p.V1145I
c.3433G>A
1 paper
NM_173500.4
p.Q1127*
c.3379C>T
1 paper
NM_173500.4
p.R1156*
c.3466C>T
2 papers
NM_173500.4
p.R1156Q
c.3467G>A
1 paper
NM_173500.4
p.R1162H
c.3485G>A
7 papers
NM_173500.4
p.R1110H
c.3329G>A
1 paper
NM_173500.4
p.S1167L
c.3500C>T
1 paper
NM_173500.4
p.G1172V
c.3515G>T
1 paper
NM_173500.4
p.H1176Y
c.3526C>T
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