Varaico: Literature-Extracted Genetic Variants

Gene:TTBK1
Variant:p.L288L

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.L288L
c.862T>C
Surrounding Variants
1 paper
NM_032538.3
p.G301S
c.901G>A
1 paper
NM_032538.3
p.A313E
c.938C>A
1 paper
NM_032538.3
p.T334P
c.1000A>C
1 paper
NM_032538.3
p.M337V
c.1009A>G
1 paper
NM_032538.3
p.Q360H
c.1080G>C
1 paper
NM_032538.3
p.Q360H
c.1080G>T
1 paper
NM_032538.3
p.S379P
c.1135T>C
1 paper
NM_032538.3
p.G383S
c.1147G>A
1 paper
NM_032538.3
p.V389A
c.1166T>C
1 paper
NM_032538.3
p.H391N
c.1171C>A
1 paper
NM_032538.3
p.E402_T403Fs
c.1205_1207delinsAFs
1 paper
NM_032538.3
p.T403A
c.1207A>G
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