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

7 papers

NM_198253.3

p.H876Q

c.2628C>A

Surrounding Variants

7 papers

NM_198253.3

p.H876Q

c.2628C>G

1 paper

NM_198253.3

p.L877R

c.2630T>G

1 paper

NM_198253.3

p.L872_P875del4

c.2614_2624del12

1 paper

NM_198253.3

p.T878T

c.2634C>T

2 papers

NM_198253.3

p.T874R

c.2621C>G

1 paper

NM_198253.3

p.T874S

c.2620A>T

1 paper

NM_198253.3

p.T874A

c.2620A>G

1 paper

NM_198253.3

p.A880S

c.2638G>T

10 papers

NM_198253.3

p.A880T

c.2638G>A

4 papers

NM_198253.3

p.A880V

c.2639C>T

2 papers

NM_198253.3

p.A880A

c.2640G>A

1 paper

NM_198253.3

p.L871F

c.2613G>T