Varaico: Literature-Extracted Genetic Variants

Gene:TTI1

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
1–12 of 77 variants
3 papers
NM_001303457.2
p.R707H
c.2120G>A
2 papers
NM_001303457.2
p.A162T
c.484G>A
2 papers
NM_001303457.2
p.H379Y
c.1135C>T
2 papers
NM_001303457.2
p.R450H
c.1349G>A
2 papers
NM_001303457.2
p.R849C
c.2545C>T
2 papers
NM_001303457.2
p.P854L
c.2561C>T
2 papers
NM_001303457.2
p.D921N
c.2761G>A
2 papers
NM_001303457.2
p.R1028K
c.3083G>A
1 paper
NM_001303457.2
p.H32_L33del2
c.94_98del6
1 paper
NM_001303457.2
p.H32_T35delFs
c.94_104del11
1 paper
NM_001303457.2
p.P55delFs
c.163delG
1 paper
NM_001303457.2
p.P65L
c.194C>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."