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

16 papers

NM_198253.3

p.R865C

c.2593C>T

Surrounding Variants

2 papers

NM_198253.3

p.R865G

c.2593C>G

1 paper

NM_198253.3

p.R865S

c.2593C>A

38 papers

NM_198253.3

p.R865H

c.2594G>A

3 papers

NM_198253.3

p.L864P

c.2591T>C

1 paper

NM_198253.3

p.L866V

c.2596T>G

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

1 paper

NM_198253.3

p.V867A

c.2600T>C

1 paper

NM_198253.3

p.G861_L862ins4

c.2583_2584ins12

1 paper

NM_198253.3

p.L862ins4

c.2585_2586ins12

1 paper

NM_198253.3

p.L862Q

c.2585T>A