Varaico: Literature-Extracted Genetic Variants

Gene:TTI2
Variant:p.F120L

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.F120L
c.360T>G
Surrounding Variants
1 paper
NM_001102401.4
p.F120L
c.360T>A
1 paper
NM_001102401.4
p.F120L
c.358T>C
1 paper
NM_001102401.4
p.G117V
c.350G>T
1 paper
NM_001102401.4
p.G117A
c.350G>C
1 paper
NM_001102401.4
p.G117E
c.350G>A
1 paper
NM_001102401.4
p.V116I
c.346G>A
1 paper
NM_001102401.4
p.V127A
c.380T>C
1 paper
NM_001102401.4
p.A110A
c.330C>A
1 paper
NM_001102401.4
p.A110S
c.328G>T
1 paper
NM_001102401.4
p.A110P
c.328G>C
1 paper
NM_001102401.4
p.G102V
c.305G>T
1 paper
NM_001102401.4
p.E98G
c.293A>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."