Varaico: Literature-Extracted Genetic Variants

Gene:TTBK1
Variant:p.D116N

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.D116N
c.346G>A
Surrounding Variants
1 paper
NM_032538.3
p.Q110_G111Splc
c.331-3C>T
2 papers
NM_032538.3
p.T127M
c.380C>T
1 paper
NM_032538.3
p.T131K
c.392C>A
1 paper
NM_032538.3
p.E140K
c.418G>A
1 paper
NM_032538.3
p.V105V
c.315A>T
1 paper
NM_032538.3
p.R98R
c.294G>A
1 paper
NM_032538.3
p.G97D
c.290G>A
1 paper
NM_032538.3
p.L84V
c.250T>G
1 paper
NM_032538.3
p.V80M
c.238G>A
1 paper
NM_032538.3
p.A79V
c.236C>T
1 paper
NM_032538.3
p.V78M
c.232G>A
1 paper
NM_032538.3
p.K75N
c.225G>C
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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."