Varaico: Literature-Extracted Genetic Variants

Gene:TTI1
Variant:p.E250K

TTI1

66 papers

Pfam Domains

TPR_TTI1_Naa 11–343UCSCTTI1 N-terminal TPR domain
TPR_TTI1_2ndaa 374–633UCSCTELO2-interacting protein 1 homologue second TPR domain
TTI1aa 653–742UCSCTELO2-interacting protein 1
TPR_TTI1_Caa 759–1043UCSCTTI1 C-terminal TPR domain

Gene Aliases

HGNC Name

TELO2 interacting protein 1

HGNC Previous Symbol

KIAA0406

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001303457.2
p.E250K
c.748G>A
Surrounding Variants
1 paper
NM_001303457.2
p.R275K
c.824G>A
1 paper
NM_001303457.2
p.D224V
c.671A>T
1 paper
NM_001303457.2
p.V280delFs
c.839delA
1 paper
NM_001303457.2
p.T218S
c.652A>T
1 paper
NM_001303457.2
p.K293M
c.878A>T
1 paper
NM_001303457.2
p.A329A
c.987T>G
1 paper
NM_001303457.2
p.K168delFs
c.504delC
2 papers
NM_001303457.2
p.A162T
c.484G>A
1 paper
NM_001303457.2
p.L159F
c.477A>T
1 paper
NM_001303457.2
p.F153I
c.457T>A
1 paper
NM_001303457.2
p.Q348*
c.1042C>T
1 paper
NM_001303457.2
p.P145L
c.434C>T
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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."