Varaico: Literature-Extracted Genetic Variants

Gene:TTI1
Variant:p.A329A

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.A329A
c.987T>G
Surrounding Variants
1 paper
NM_001303457.2
p.Q348*
c.1042C>T
1 paper
NM_001303457.2
p.K293M
c.878A>T
1 paper
NM_001303457.2
p.L378Q
c.1133T>A
1 paper
NM_001303457.2
p.V280delFs
c.839delA
2 papers
NM_001303457.2
p.H379Y
c.1135C>T
1 paper
NM_001303457.2
p.R275K
c.824G>A
1 paper
NM_001303457.2
p.L385F
c.1153C>T
1 paper
NM_001303457.2
p.Q395L
c.1184A>T
1 paper
NM_001303457.2
p.S399_L404del0
c.1197_1211del15
1 paper
NM_001303457.2
p.S399_L404del6
c.1195_1211del18
1 paper
NM_001303457.2
p.G406D
c.1217G>A
1 paper
NM_001303457.2
p.E250K
c.748G>A
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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."