Varaico: Literature-Extracted Genetic Variants

Gene:TTBK1
Variant:p.R1044H

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.R1044H
c.3131G>A
Surrounding Variants
1 paper
NM_032538.3
p.S1041F
c.3122C>T
1 paper
NM_032538.3
p.M1047I
c.3141G>A
1 paper
NM_032538.3
p.M1047I
c.3141G>C
1 paper
NM_032538.3
p.M1047I
c.3141G>T
1 paper
NM_032538.3
p.A1025S
c.3073G>T
1 paper
NM_032538.3
p.D1022N
c.3064G>A
1 paper
NM_032538.3
p.P1018L
c.3053C>T
1 paper
NM_032538.3
p.N1016K
c.3048T>A
1 paper
NM_032538.3
p.N1016K
c.3048T>G
1 paper
NM_032538.3
p.A1010T
c.3028G>A
1 paper
NM_032538.3
p.A1010S
c.3028G>T
1 paper
NM_032538.3
p.R1003fs
c.3007_3008fs
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