Varaico: Literature-Extracted Genetic Variants

Gene:TTI2
Variant:p.L34V

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.L34V
c.100T>G
Surrounding Variants
1 paper
NM_001102401.4
p.A38G
c.113C>G
1 paper
NM_001102401.4
p.A29G
c.86C>G
1 paper
NM_001102401.4
p.P40S
c.118C>T
1 paper
NM_001102401.4
p.G27R
c.79G>C
1 paper
NM_001102401.4
p.G27R
c.79G>A
1 paper
NM_001102401.4
p.A42T
c.124G>A
1 paper
NM_001102401.4
p.G45A
c.134G>C
1 paper
NM_001102401.4
p.N46S
c.137A>G
1 paper
NM_001102401.4
p.L21_S22ins10
c.61_65ins30
1 paper
NM_001102401.4
p.E20G
c.59A>G
1 paper
NM_001102401.4
p.E13fs
c.37_38fs
1 paper
NM_001102401.4
p.E13G
c.38A>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."