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.R293H

c.878G>A

Surrounding Variants

1 paper

NM_198253.3

p.G291_T292delFs

c.872_875del4

1 paper

NM_198253.3

p.H294Y

c.880C>T

3 papers

NM_198253.3

p.T292M

c.875C>T

1 paper

NM_198253.3

p.T292K

c.875C>A

3 papers

NM_198253.3

p.H294H

c.882C>T

1 paper

NM_198253.3

p.H294Q

c.882C>G

1 paper

NM_198253.3

p.T292A

c.874A>G

2 papers

NM_198253.3

p.S295F

c.884C>T

1 paper

NM_198253.3

p.G291C

c.871G>T

1 paper

NM_198253.3

p.L289delFs

c.866_867delGA

1 paper

NM_198253.3

p.L289_S290del2

c.865_869del6

1 paper

NM_198253.3

p.E286_S290delFs

c.857_869del13