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.P65P

c.195C>A

Surrounding Variants

2 papers

NM_198253.3

p.P65L

c.194C>T

2 papers

NM_198253.3

p.P65S

c.193C>T

1 paper

NM_198253.3

p.P66L

c.197C>T

8 papers

NM_198253.3

p.P65A

c.193C>G

7 papers

NM_198253.3

p.P65T

c.193C>A

1 paper

NM_198253.3

p.P64P

c.192G>C

1 paper

NM_198253.3

p.P66P

c.198C>G

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.P64L

c.191C>T

1 paper

NM_198253.3

p.A67fs

c.199_200fs