Varaico: Literature-Extracted Genetic Variants

Gene:TTBK1
Variant:p.S1288P

TTBK1

146 papers

RefSeq Summary

This gene belongs to the casein kinase 1 superfamily. The encoded protein is a neuron-specific, serine/threonine and tyrosine kinase, which regulates phosphorylation of tau, a protein that associates ...

Pfam Domains

Pkinaseaa 34–305UCSCProtein kinase domain

Gene Aliases

HGNC Name

tau tubulin kinase 1

HGNC Alias Symbol

KIAA1855

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032538.3
p.S1288P
c.3862T>C
Surrounding Variants
1 paper
NM_032538.3
p.Q1301Q
c.3903G>A
1 paper
NM_032538.3
p.A1305S
c.3913G>T
1 paper
NM_032538.3
p.Q1265P
c.3794A>C
1 paper
NM_032538.3
p.P1262R
c.3785C>G
1 paper
NM_032538.3
p.S1261P
c.3781T>C
1 paper
NM_032538.3
p.S1261fs
c.3781_3782fs
1 paper
NM_032538.3
p.S1261delFs
c.3782delC
1 paper
NM_032538.3
p.L1254P
c.3761T>C
1 paper
NM_032538.3
p.P1236S
c.3706C>T
2 papers
NM_032538.3
p.P1233A
c.3697C>G
2 papers
NM_032538.3
p.G1224E
c.3671G>A
1 paper
NM_032538.3
p.R1214H
c.3641G>A
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."