Varaico: Literature-Extracted Genetic Variants

Gene:TTBK1
Variant:p.E744D

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.E744D
c.2232G>C
Surrounding Variants
1 paper
NM_032538.3
p.E744D
c.2232G>T
1 paper
NM_032538.3
p.D748del1
c.2242_2244delGAT
1 paper
NM_032538.3
p.D741E
c.2223T>A
1 paper
NM_032538.3
p.D741E
c.2223T>G
5 papers
NM_032538.3
p.E750del1
c.2248_2249delGAA
1 paper
NM_032538.3
p.E753del1
c.2257_2258delGAG
1 paper
NM_032538.3
p.E735D
c.2205G>C
1 paper
NM_032538.3
p.E735D
c.2205G>T
1 paper
NM_032538.3
p.E757K
c.2269G>A
1 paper
NM_032538.3
p.E766_E767del1
c.2298_2300delGGA
1 paper
NM_032538.3
p.E767del1
c.2299_2300delGAA
1 paper
NM_032538.3
p.A777S
c.2329G>T
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