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.P23delFs

c.68delG

Surrounding Variants

1 paper

NM_198253.3

p.P23P

c.69G>T

1 paper

NM_198253.3

p.P23insFs

c.68dupC

2 papers

NM_198253.3

p.P23P

c.69G>A

2 papers

NM_198253.3

p.L24L

c.70C>T

1 paper

NM_198253.3

p.P23fs

c.67_68fs

2 papers

NM_198253.3

p.L22L

c.66G>C

1 paper

NM_198253.3

p.L24L

c.72G>C

4 papers

NM_198253.3

p.L22L

c.66G>A

1 paper

NM_198253.3

p.L22P

c.65T>C

1 paper

NM_198253.3

p.L22Q

c.65T>A

1 paper

NM_198253.3

p.A25P

c.73G>C

1 paper

NM_198253.3

p.A25T

c.73G>A