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.P66P

c.198C>G

Surrounding Variants

1 paper

NM_198253.3

p.P66insFs

c.198dupC

1 paper

NM_198253.3

p.A67T

c.199G>A

1 paper

NM_198253.3

p.P66delFs

c.198delG

1 paper

NM_198253.3

p.P66L

c.197C>T

1 paper

NM_198253.3

p.A67fs

c.199_200fs

3 papers

NM_198253.3

p.A67V

c.200C>T

2 papers

NM_198253.3

p.A67A

c.201C>T

1 paper

NM_198253.3

p.A67A

c.201C>G

2 papers

NM_198253.3

p.A67fs

c.199_200fs

1 paper

NM_198253.3

p.A67A

c.201C>A

1 paper

NM_198253.3

p.P65P

c.195C>A

1 paper

NM_198253.3

p.A68S

c.202G>T