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.F883L

c.2649C>G

Surrounding Variants

1 paper

NM_198253.3

p.F883L

c.2649C>A

1 paper

NM_198253.3

p.F883C

c.2648T>G

1 paper

NM_198253.3

p.L884V

c.2650C>G

1 paper

NM_198253.3

p.L884P

c.2651T>C

1 paper

NM_198253.3

p.F883L

c.2647T>C

2 papers

NM_198253.3

p.F883I

c.2647T>A

6 papers

NM_198253.3

p.T882I

c.2645C>T

2 papers

NM_198253.3

p.A880A

c.2640G>A

4 papers

NM_198253.3

p.A880V

c.2639C>T

1 paper

NM_198253.3

p.A880S

c.2638G>T

10 papers

NM_198253.3

p.A880T

c.2638G>A

1 paper

NM_198253.3

p.R885Splc

c.2654+10G>A