Varaico: Literature-Extracted Genetic Variants

Gene:TTBK1
Variant:p.M250delFs

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
3 papers
NM_032538.3
p.M250delFs
c.750delG
Surrounding Variants
1 paper
NM_032538.3
p.R258Q
c.773G>A
1 paper
NM_032538.3
p.H269P
c.806A>C
1 paper
NM_032538.3
p.D285Y
c.853G>T
1 paper
NM_032538.3
p.K243K
c.729G>A
1 paper
NM_032538.3
p.D221A
c.662A>C
1 paper
NM_032538.3
p.R204C
c.610C>T
1 paper
NM_032538.3
p.T202M
c.605C>T
1 paper
NM_032538.3
p.R194Q
c.581G>A
1 paper
NM_032538.3
p.R194W
c.580C>T
1 paper
NM_032538.3
p.P192_P193Splc
c.577-25G>A
1 paper
NM_032538.3
p.A180delFs
c.538delG
1 paper
NM_032538.3
p.L288L
c.862T>C
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