Varaico: Literature-Extracted Genetic Variants

Gene:TTI2
Variant:p.R472W

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.R472W
c.1414C>T
Surrounding Variants
1 paper
NM_001102401.4
p.C468R
c.1402T>C
1 paper
NM_001102401.4
p.T459delFs
c.1376_1377delTG
1 paper
NM_001102401.4
p.T459fs
c.1375_1376fs
1 paper
NM_001102401.4
p.R441W
c.1321A>T
1 paper
NM_001102401.4
p.C437G
c.1309T>G
8 papers
NM_001102401.4
p.I436N
c.1307T>A
1 paper
NM_001102401.4
p.S422F
c.1265C>T
1 paper
NM_001102401.4
p.Y492C
c.1475A>G
1 paper
NM_001102401.4
p.R494K
c.1481G>A
1 paper
NM_001102401.4
p.V496V
c.1488G>T
1 paper
NM_001102401.4
p.S500F
c.1499C>T
1 paper
NM_001102401.4
p.N506H
c.1516A>C
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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."