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

6 papers

NM_198253.3

p.V81V

c.243G>A

Surrounding Variants

1 paper

NM_198253.3

p.V81G

c.242T>G

1 paper

NM_198253.3

p.V81A

c.242T>C

1 paper

NM_198253.3

p.A82S

c.244G>T

1 paper

NM_198253.3

p.A82P

c.244G>C

1 paper

NM_198253.3

p.V81M

c.241G>A

1 paper

NM_198253.3

p.A82D

c.245C>A

1 paper

NM_198253.3

p.L80Q

c.239T>A

1 paper

NM_198253.3

p.R83*

c.247C>T

10 papers

NM_198253.3

p.R83P

c.248G>C

3 papers

NM_198253.3

p.R83Q

c.248G>A

1 paper

NM_198253.3

p.E79D

c.237G>T

1 paper

NM_198253.3

p.E79D

c.237G>C