Varaico: Literature-Extracted Genetic Variants

Gene:TTBK1
Variant:p.R426L

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.R426L
c.1277G>T
Surrounding Variants
1 paper
NM_032538.3
p.S433fs
c.1297_1298fs
1 paper
NM_032538.3
p.S433delFs
c.1298delC
1 paper
NM_032538.3
p.R436C
c.1306C>T
1 paper
NM_032538.3
p.A437insFs
c.1310dupC
1 paper
NM_032538.3
p.A437fs
c.1309_1310fs
1 paper
NM_032538.3
p.A437V
c.1310C>T
1 paper
NM_032538.3
p.P438L
c.1313C>T
1 paper
NM_032538.3
p.P439fs
c.1315_1316fs
2 papers
NM_032538.3
p.T443_T444insFs
c.1329_1330insA
1 paper
NM_032538.3
p.G467W
c.1399G>T
1 paper
NM_032538.3
p.K416_S417Splc
c.1249-128G>A
1 paper
NM_032538.3
p.R407Q
c.1220G>A
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