Varaico: Literature-Extracted Genetic Variants

Gene:TELO2
Variant:p.T145R

TELO2

117 papers

RefSeq Summary

This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may also play a role in DNA repair.[provided by RefSeq, Mar 2009].

Pfam Domains

TELO2_ARMaa 303–436UCSCTELO2 ARM repeat domain
Telomere_reg-2aa 512–620UCSCTelomere length regulation protein

Gene Aliases

HGNC Name

telomere maintenance 2

HGNC Alias Symbols

KIAA0683; hCLK2; TEL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016111.4
p.T145R
c.434C>G
Surrounding Variants
1 paper
NM_016111.4
p.T145M
c.434C>T
3 papers
NM_016111.4
p.Q146R
c.437A>G
1 paper
NM_016111.4
p.Q143H
c.429G>C
1 paper
NM_016111.4
p.Q143H
c.429G>T
1 paper
NM_016111.4
p.G148V
c.443G>T
1 paper
NM_016111.4
p.R142W
c.424C>T
4 papers
NM_016111.4
p.R132W
c.394C>T
6 papers
NM_016111.4
p.G131D
c.392G>A
1 paper
NM_016111.4
p.R126K
c.377G>A
1 paper
NM_016111.4
p.L124L
c.372G>T
1 paper
NM_016111.4
p.A121A
c.363G>A
1 paper
NM_016111.4
p.A121E
c.362C>A
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