Varaico: Literature-Extracted Genetic Variants

Gene:TTI1
Variant:p.Y475_F476delFs

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.Y475_F476delFs
c.1425_1426delAA
Surrounding Variants
1 paper
NM_001303457.2
p.R474K
c.1421G>A
1 paper
NM_001303457.2
p.L494R
c.1481T>G
2 papers
NM_001303457.2
p.R450H
c.1349G>A
1 paper
NM_001303457.2
p.D506N
c.1516G>A
1 paper
NM_001303457.2
p.D439D
c.1317C>T
1 paper
NM_001303457.2
p.L436Q
c.1307T>A
1 paper
NM_001303457.2
p.R519Q
c.1556G>A
1 paper
NM_001303457.2
p.Q521*
c.1561C>T
1 paper
NM_001303457.2
p.G406D
c.1217G>A
1 paper
NM_001303457.2
p.S399_L404del6
c.1195_1211del18
1 paper
NM_001303457.2
p.S399_L404del0
c.1197_1211del15
1 paper
NM_001303457.2
p.N549S
c.1646A>G
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