Varaico: Literature-Extracted Genetic Variants

Gene:TELO2
Variant:p.V766M

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
9 papers
NM_016111.4
p.V766M
c.2296G>A
Surrounding Variants
1 paper
NM_016111.4
p.R767G
c.2299C>G
3 papers
NM_016111.4
p.R767C
c.2299C>T
1 paper
NM_016111.4
p.R767H
c.2300G>A
6 papers
NM_016111.4
p.L771S
c.2312T>C
1 paper
NM_016111.4
p.S776S
c.2328C>T
1 paper
NM_016111.4
p.L779L
c.2337C>T
1 paper
NM_016111.4
p.D789E
c.2367C>A
1 paper
NM_016111.4
p.D789E
c.2367C>G
1 paper
NM_016111.4
p.D763A
c.2288A>C
1 paper
NM_016111.4
p.H761L
c.2282A>T
1 paper
NM_016111.4
p.R759H
c.2276G>A
4 papers
NM_016111.4
p.R759G
c.2275C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."