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.D868V

c.2603A>T

Surrounding Variants

3 papers

NM_198253.3

p.D868G

c.2603A>G

10 papers

NM_198253.3

p.D868A

c.2603A>C

1 paper

NM_198253.3

p.D868E

c.2604T>G

1 paper

NM_198253.3

p.D868E

c.2604T>A

6 papers

NM_198253.3

p.D868N

c.2602G>A

3 papers

NM_198253.3

p.D869N

c.2605G>A

1 paper

NM_198253.3

p.V867A

c.2600T>C

1 paper

NM_198253.3

p.D869G

c.2606A>G

6 papers

NM_198253.3

p.D869A

c.2606A>C

3 papers

NM_198253.3

p.V867L

c.2599G>T

3 papers

NM_198253.3

p.V867L

c.2599G>C

14 papers

NM_198253.3

p.V867M

c.2599G>A