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.R29Q

c.86G>A

Surrounding Variants

1 paper

NM_198253.3

p.R29R

c.87G>T

1 paper

NM_198253.3

p.R29fs

c.85_86fs

1 paper

NM_198253.3

p.R29W

c.85C>T

1 paper

NM_198253.3

p.R29G

c.85C>G

3 papers

NM_198253.3

p.V28insFs

c.83dupT

1 paper

NM_198253.3

p.R30C

c.88C>T

1 paper

NM_198253.3

p.R30S

c.88C>A

1 paper

NM_198253.3

p.Y18_R29delFs

c.53_87del35

4 papers

NM_198253.3

p.V28G

c.83T>G

1 paper

NM_198253.3

p.R30H

c.89G>A

1 paper

NM_198253.3

p.V28M

c.82G>A

3 papers

NM_198253.3

p.R30R

c.90C>T