Varaico: Literature-Extracted Genetic Variants

Gene:TTBK1

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
1–12 of 162 variants
5 papers
NM_032538.3
p.E750del1
c.2248_2249delGAA
3 papers
NM_032538.3
p.M250delFs
c.750delG
2 papers
NM_032538.3
p.L8P
c.23T>C
2 papers
NM_032538.3
p.T127M
c.380C>T
2 papers
NM_032538.3
p.T443_T444insFs
c.1329_1330insA
2 papers
NM_032538.3
p.P613L
c.1838C>T
2 papers
NM_032538.3
p.G623A
c.1868G>C
2 papers
NM_032538.3
p.P848S
c.2542C>T
2 papers
NM_032538.3
p.K1145R
c.3434A>G
2 papers
NM_032538.3
p.G1224E
c.3671G>A
2 papers
NM_032538.3
p.P1233A
c.3697C>G
1 paper
NM_032538.3
p.C3Y
c.8G>A
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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."