Varaico: Literature-Extracted Genetic Variants

Gene:TELO2
Variant:p.R576C

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.R576C
c.1726C>T
Surrounding Variants
1 paper
NM_016111.4
p.R576H
c.1727G>A
1 paper
NM_016111.4
p.R576P
c.1727G>C
1 paper
NM_016111.4
p.L575Q
c.1724T>A
1 paper
NM_016111.4
p.G571fs
c.1711_1712fs
1 paper
NM_016111.4
p.G571delFs
c.1712delG
5 papers
NM_016111.4
p.T584insFs
c.1750dupA
5 papers
NM_016111.4
p.T584fs
c.1750_1751fs
1 paper
NM_016111.4
p.V559M
c.1675G>A
1 paper
NM_016111.4
p.P590_V591Splc
c.1770+10C>T
1 paper
NM_016111.4
p.A557T
c.1669G>A
1 paper
NM_016111.4
p.E555E
c.1665G>A
1 paper
NM_016111.4
p.S553N
c.1658G>A
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