Varaico: Literature-Extracted Genetic Variants

Gene:TELO2
Variant:p.R404C

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.R404C
c.1210C>T
Surrounding Variants
1 paper
NM_016111.4
p.R404H
c.1211G>A
3 papers
NM_016111.4
p.R403*
c.1207C>T
4 papers
NM_016111.4
p.G406S
c.1216G>A
1 paper
NM_016111.4
p.E382Splc
c.1145-11G>A
1 paper
NM_016111.4
p.Q427_Y428Splc
c.1281+6C>T
2 papers
NM_016111.4
p.E382Splc
c.1144+6C>T
1 paper
NM_016111.4
p.R377W
c.1129C>T
11 papers
NM_016111.4
p.C367F
c.1100G>T
1 paper
NM_016111.4
p.H359R
c.1076A>G
1 paper
NM_016111.4
p.R358H
c.1073G>A
1 paper
NM_016111.4
p.Q356L
c.1067A>T
1 paper
NM_016111.4
p.I349L
c.1045A>C
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