Varaico: Literature-Extracted Genetic Variants

Gene:TTBK1
Variant:p.S786R

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.S786R
c.2358T>G
Surrounding Variants
1 paper
NM_032538.3
p.S786R
c.2358T>A
1 paper
NM_032538.3
p.S786insFs
c.2356_2357insC
1 paper
NM_032538.3
p.S786R
c.2356A>C
1 paper
NM_032538.3
p.S786fs
c.2356_2357fs
1 paper
NM_032538.3
p.S788P
c.2362T>C
1 paper
NM_032538.3
p.R785delFs
c.2354delG
1 paper
NM_032538.3
p.R785fs
c.2353_2354fs
1 paper
NM_032538.3
p.G783E
c.2348G>A
1 paper
NM_032538.3
p.A777S
c.2329G>T
1 paper
NM_032538.3
p.E767del1
c.2299_2300delGAA
1 paper
NM_032538.3
p.L808_S816delFs
c.2423_2448del26
1 paper
NM_032538.3
p.L808L
c.2422C>T
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