Varaico: Literature-Extracted Genetic Variants

Gene:TTBK1
Variant:p.P633delFs

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.P633delFs
c.1899delC
Surrounding Variants
1 paper
NM_032538.3
p.T629T
c.1887G>A
1 paper
NM_032538.3
p.T634P
c.1900A>C
1 paper
NM_032538.3
p.T634fs
c.1900_1901fs
1 paper
NM_032538.3
p.S627S
c.1881C>T
2 papers
NM_032538.3
p.G623A
c.1868G>C
1 paper
NM_032538.3
p.G623V
c.1868G>T
2 papers
NM_032538.3
p.P613L
c.1838C>T
1 paper
NM_032538.3
p.R585Q
c.1754G>A
1 paper
NM_032538.3
p.R584Q
c.1751G>A
1 paper
NM_032538.3
p.E582K
c.1744G>A
1 paper
NM_032538.3
p.I545M
c.1635C>G
1 paper
NM_032538.3
p.R528H
c.1583G>A
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