Varaico: Literature-Extracted Genetic Variants

Gene:TTBK1
Variant:p.N940N

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.N940N
c.2820C>T
Surrounding Variants
1 paper
NM_032538.3
p.A934V
c.2801C>T
1 paper
NM_032538.3
p.E963Q
c.2887G>C
1 paper
NM_032538.3
p.V916M
c.2746G>A
1 paper
NM_032538.3
p.G914R
c.2740G>A
1 paper
NM_032538.3
p.G914R
c.2740G>C
1 paper
NM_032538.3
p.G901A
c.2702G>C
1 paper
NM_032538.3
p.P900S
c.2698C>T
1 paper
NM_032538.3
p.K892N
c.2676G>C
1 paper
NM_032538.3
p.S999C
c.2996C>G
1 paper
NM_032538.3
p.R1003fs
c.3007_3008fs
1 paper
NM_032538.3
p.A1010T
c.3028G>A
1 paper
NM_032538.3
p.A1010S
c.3028G>T
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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."