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

3 papers

NM_198253.3

p.R268C

c.802C>T

Surrounding Variants

1 paper

NM_198253.3

p.R268L

c.803G>T

1 paper

NM_198253.3

p.R268P

c.803G>C

1 paper

NM_198253.3

p.S266N

c.797G>A

2 papers

NM_198253.3

p.F270L

c.808T>C

1 paper

NM_198253.3

p.F270I

c.808T>A

1 paper

NM_198253.3

p.F270C

c.809T>G

1 paper

NM_198253.3

p.P265P

c.795G>C

2 papers

NM_198253.3

p.F270L

c.810C>G

3 papers

NM_198253.3

p.P265Q

c.794C>A

2 papers

NM_198253.3

p.F270L

c.810C>A

1 paper

NM_198253.3

p.F270insFs

c.810dupC

1 paper

NM_198253.3

p.C271Y

c.812G>A