Varaico: Literature-Extracted Genetic Variants

Gene:TELO2
Variant:p.A619T

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.A619T
c.1855G>A
Surrounding Variants
1 paper
NM_016111.4
p.L618P
c.1853T>C
1 paper
NM_016111.4
p.D614_V615Splc
c.1843-12G>A
1 paper
NM_016111.4
p.L629L
c.1887C>T
1 paper
NM_016111.4
p.P638Q
c.1913C>A
2 papers
NM_016111.4
p.V657M
c.1969G>A
1 paper
NM_016111.4
p.A658A
c.1974G>A
1 paper
NM_016111.4
p.V665G
c.1994T>G
1 paper
NM_016111.4
p.R668W
c.2002C>T
1 paper
NM_016111.4
p.R668Q
c.2003G>A
2 papers
NM_016111.4
p.Q674R
c.2021A>G
6 papers
NM_016111.4
p.K678_G679Splc
c.2034+1G>A
1 paper
NM_016111.4
p.P689L
c.2066C>T
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."