Varaico: Literature-Extracted Genetic Variants

Gene:TTBK2
Variant:p.R944*

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.R944*
c.2830C>T
Surrounding Variants
2 papers
NM_173500.4
p.R944Q
c.2831G>A
1 paper
NM_173500.4
p.R930Q
c.2789G>A
1 paper
NM_173500.4
p.K971R
c.2912A>G
2 papers
NM_173500.4
p.P976S
c.2926C>T
1 paper
NM_173500.4
p.G894E
c.2681G>A
2 papers
NM_173500.4
p.D994Y
c.2980G>T
1 paper
NM_173500.4
p.L1002S
c.3005T>C
1 paper
NM_173500.4
p.D882A
c.2645A>C
2 papers
NM_173500.4
p.E864E
c.2592A>G
6 papers
NM_173500.4
p.E842G
c.2525A>G
1 paper
NM_173500.4
p.S1046F
c.3137C>T
2 papers
NM_173500.4
p.T1062I
c.3185C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."