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.Q73_V74Splc

c.219+7C>T

Surrounding Variants

5 papers

NM_198253.3

p.Q73_V74Splc

c.219+1G>A

1 paper

NM_198253.3

p.Q73Q

c.219G>A

1 paper

NM_198253.3

p.Q73P

c.218A>C

2 papers

NM_198253.3

p.Q73*

c.217C>T

8 papers

NM_198253.3

p.R72R

c.216C>T

8 papers

NM_198253.3

p.R72P

c.215G>C

1 paper

NM_198253.3

p.R72H

c.215G>A

1 paper

NM_198253.3

p.F71L

c.213C>G

1 paper

NM_198253.3

p.F71_R72insFs

c.213_214insT

1 paper

NM_198253.3

p.F71L

c.213C>A

2 papers

NM_198253.3

p.F71S

c.212T>C

1 paper

NM_198253.3

p.S70insFs

c.209dupC