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.P173_A180del0

c.518_538del21

Surrounding Variants

1 paper

NM_198253.3

p.A180V

c.539C>T

1 paper

NM_198253.3

p.A180T

c.538G>A

1 paper

NM_198253.3

p.A181D

c.542C>A

2 papers

NM_198253.3

p.A181A

c.543C>T

1 paper

NM_198253.3

p.G179G

c.537C>T

1 paper

NM_198253.3

p.A181A

c.543C>G

1 paper

NM_198253.3

p.G179A

c.536G>C

1 paper

NM_198253.3

p.G179D

c.536G>A

1 paper

NM_198253.3

p.L178_G179delFs

c.534_535delCG

1 paper

NM_198253.3

p.T182S

c.544A>T

2 papers

NM_198253.3

p.T182S

c.545C>G

1 paper

NM_198253.3

p.L178L

c.534C>T