Varaico: Literature-Extracted Genetic Variants

Gene:TTI1
Variant:p.P854L

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
2 papers
NM_001303457.2
p.P854L
c.2561C>T
Surrounding Variants
2 papers
NM_001303457.2
p.R849C
c.2545C>T
1 paper
NM_001303457.2
p.D844Y
c.2530G>T
1 paper
NM_001303457.2
p.V866M
c.2596G>A
1 paper
NM_001303457.2
p.D887A
c.2660A>C
1 paper
NM_001303457.2
p.P905S
c.2713C>T
1 paper
NM_001303457.2
p.L906delFs
c.2717delA
1 paper
NM_001303457.2
p.R917L
c.2750G>T
2 papers
NM_001303457.2
p.D921N
c.2761G>A
1 paper
NM_001303457.2
p.V822V
c.2466G>A
1 paper
NM_001303457.2
p.T803I
c.2408C>T
1 paper
NM_001303457.2
p.K939R
c.2816A>G
1 paper
NM_001303457.2
p.L997P
c.2990T>C
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