Varaico: Literature-Extracted Genetic Variants

TERT

3,344 papers

RefSeq Summary

Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, enc...

Pfam Domains

Telomerase_RBDaa 460–592UCSCTelomerase ribonucleoprotein complex - RNA binding domain

TERT_Caa 968–1097UCSCTelomerase reverse transcriptase, C-terminal extension

Gene Aliases

HGNC Name

telomerase reverse transcriptase

HGNC Alias Symbols

TRT; TP2; TCS1; hEST2; EST2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_198253.3

p.S284C

c.851C>G

Surrounding Variants

1 paper

NM_198253.3

p.S284F

c.851C>T

1 paper

NM_198253.3

p.T283insFs

c.849dupC

1 paper

NM_198253.3

p.T283N

c.848C>A

1 paper

NM_198253.3

p.E286*

c.856G>T

2 papers

NM_198253.3

p.E286K

c.856G>A

1 paper

NM_198253.3

p.E286fs

c.856_857fs

1 paper

NM_198253.3

p.E286V

c.857A>T

2 papers

NM_198253.3

p.A282_T283insCCG

c.844_848ins9

1 paper

NM_198253.3

p.E286E

c.858G>A

1 paper

NM_198253.3

p.A282T

c.844G>A

1 paper

NM_198253.3

p.G287R

c.859G>C

1 paper

NM_198253.3

p.G287S

c.859G>A