Varaico: Literature-Extracted Genetic Variants

Gene:TELO2
Variant:p.D720V

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.D720V
c.2159A>T
Surrounding Variants
1 paper
NM_016111.4
p.Q721K
c.2161C>A
1 paper
NM_016111.4
p.V723F
c.2167G>T
2 papers
NM_016111.4
p.G725R
c.2173G>A
2 papers
NM_016111.4
p.G725R
c.2173G>C
1 paper
NM_016111.4
p.L737P
c.2210T>C
2 papers
NM_016111.4
p.V739A
c.2216T>C
3 papers
NM_016111.4
p.T742T
c.2226G>A
1 paper
NM_016111.4
p.T742_V743Splc
c.2227-1G>T
3 papers
NM_016111.4
p.K749*
c.2245A>T
2 papers
NM_016111.4
p.K749T
c.2246A>C
1 paper
NM_016111.4
p.A750V
c.2249C>T
1 paper
NM_016111.4
p.E753A
c.2258A>C
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