Varaico: Literature-Extracted Genetic Variants

Gene:TTI2
Variant:p.I206R

TTI2

66 papers

RefSeq Summary

This gene encodes a regulator of the DNA damage response. The protein is a component of the Triple T complex (TTT) which also includes telomere length regulation protein and TELO2 interacting protein ...

Pfam Domains

Tti2aa 195–399UCSCTti2 family

Gene Aliases

HGNC Name

TELO2 interacting protein 2

HGNC Previous Symbol

C8orf41

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001102401.4
p.I206R
c.617T>G
Surrounding Variants
1 paper
NM_001102401.4
p.S204L
c.611C>T
1 paper
NM_001102401.4
p.G201R
c.601G>A
1 paper
NM_001102401.4
p.G194V
c.581G>T
2 papers
NM_001102401.4
p.G194A
c.581G>C
1 paper
NM_001102401.4
p.G194R
c.580G>C
1 paper
NM_001102401.4
p.G194R
c.580G>A
3 papers
NM_001102401.4
p.L192P
c.575T>C
1 paper
NM_001102401.4
p.F191V
c.571T>G
3 papers
NM_001102401.4
p.L180P
c.539T>C
1 paper
NM_001102401.4
p.Q161P
c.482A>C
1 paper
NM_001102401.4
p.V127A
c.380T>C
1 paper
NM_001102401.4
p.F120L
c.360T>G
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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."