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.L31insFs

c.91_92ins7

Surrounding Variants

1 paper

NM_198253.3

p.L31L

c.91C>T

1 paper

NM_198253.3

p.L31V

c.91C>G

1 paper

NM_198253.3

p.L31insFs

c.91_92ins8

1 paper

NM_198253.3

p.L31P

c.92T>C

3 papers

NM_198253.3

p.R30R

c.90C>T

2 papers

NM_198253.3

p.R30insFs

c.89dupG

1 paper

NM_198253.3

p.L31L

c.93G>C

1 paper

NM_198253.3

p.L31L

c.93G>A

1 paper

NM_198253.3

p.R30H

c.89G>A

1 paper

NM_198253.3

p.G32W

c.94G>T

1 paper

NM_198253.3

p.G32R

c.94G>C

2 papers

NM_198253.3

p.G32R

c.94G>A