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.W137*

c.410G>A

Surrounding Variants

1 paper

NM_198253.3

p.W137G

c.409T>G

2 papers

NM_198253.3

p.G138R

c.412G>C

2 papers

NM_198253.3

p.G138R

c.412G>A

1 paper

NM_198253.3

p.G138E

c.413G>A

1 paper

NM_198253.3

p.G135delFs

c.403delC

1 paper

NM_198253.3

p.G135delFs

c.403_404delCC

1 paper

NM_198253.3

p.G133_G135del3

c.397_404del9

3 papers

NM_198253.3

p.G138G

c.414G>C

1 paper

NM_198253.3

p.G135G

c.405G>C

1 paper

NM_198253.3

p.L139V

c.415C>G

1 paper

NM_198253.3

p.L139_L140insGA

c.415_419ins6

4 papers

NM_198253.3

p.L139R

c.416T>G