Varaico: Literature-Extracted Genetic Variants

Gene:TELO2
Variant:p.Q598fs

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.Q598fs
c.1792_1793fs
Surrounding Variants
1 paper
NM_016111.4
p.Q598*
c.1792C>T
2 papers
NM_016111.4
p.Y600C
c.1799A>G
1 paper
NM_016111.4
p.L595M
c.1783C>A
5 papers
NM_016111.4
p.V591G
c.1772T>G
1 paper
NM_016111.4
p.R607Q
c.1820G>A
13 papers
NM_016111.4
p.R609H
c.1826G>A
1 paper
NM_016111.4
p.R609P
c.1826G>C
1 paper
NM_016111.4
p.R609L
c.1826G>T
1 paper
NM_016111.4
p.I612M
c.1836C>G
1 paper
NM_016111.4
p.D614G
c.1841A>G
1 paper
NM_016111.4
p.D614_V615Splc
c.1842+1G>A
1 paper
NM_016111.4
p.P590_V591Splc
c.1770+10C>T
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