Varaico: Literature-Extracted Genetic Variants

Gene:TTBK1
Variant:p.S485L

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.S485L
c.1454C>T
Surrounding Variants
1 paper
NM_032538.3
p.R486S
c.1456C>A
1 paper
NM_032538.3
p.D513E
c.1539C>A
1 paper
NM_032538.3
p.D513E
c.1539C>G
1 paper
NM_032538.3
p.Q520R
c.1559A>G
1 paper
NM_032538.3
p.N525K
c.1575C>A
1 paper
NM_032538.3
p.R528H
c.1583G>A
1 paper
NM_032538.3
p.I545M
c.1635C>G
1 paper
NM_032538.3
p.E582K
c.1744G>A
1 paper
NM_032538.3
p.R584Q
c.1751G>A
1 paper
NM_032538.3
p.R585Q
c.1754G>A
2 papers
NM_032538.3
p.P613L
c.1838C>T
2 papers
NM_032538.3
p.G623A
c.1868G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."