Varaico: Literature-Extracted Genetic Variants

Gene:TTI2
Variant:p.P367L

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
7 papers
NM_001102401.4
p.P367L
c.1100C>T
Surrounding Variants
1 paper
NM_001102401.4
p.R364G
c.1090A>G
1 paper
NM_001102401.4
p.R372Splc
c.1115+1G>T
1 paper
NM_001102401.4
p.T361N
c.1082C>A
5 papers
NM_001102401.4
p.R359C
c.1075C>T
1 paper
NM_001102401.4
p.R355H
c.1064G>A
1 paper
NM_001102401.4
p.R355C
c.1063C>T
1 paper
NM_001102401.4
p.P352S
c.1054C>T
1 paper
NM_001102401.4
p.M350V
c.1048A>G
1 paper
NM_001102401.4
p.I346T
c.1037T>C
2 papers
NM_001102401.4
p.R344Q
c.1031G>A
1 paper
NM_001102401.4
p.R334L
c.1001G>T
2 papers
NM_001102401.4
p.R334Q
c.1001G>A
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