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.Q40H

c.120G>C

Surrounding Variants

1 paper

NM_198253.3

p.Q40Q

c.120G>A

3 papers

NM_198253.3

p.R41C

c.121C>T

1 paper

NM_198253.3

p.R41S

c.121C>A

3 papers

NM_198253.3

p.R41H

c.122G>A

2 papers

NM_198253.3

p.Q40*

c.118C>T

1 paper

NM_198253.3

p.V39_Q40insFs

c.117_118ins7

1 paper

NM_198253.3

p.V39_Q40insFs

c.117_118ins11

1 paper

NM_198253.3

p.V39V

c.117G>C

1 paper

NM_198253.3

p.V39V

c.117G>A

4 papers

NM_198253.3

p.R41R

c.123C>T

1 paper

NM_198253.3

p.R41R

c.123C>G

1 paper

NM_198253.3

p.V39E

c.116T>A