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.A437D

c.1310C>A

Surrounding Variants

3 papers

NM_198253.3

p.A436V

c.1307C>T

1 paper

NM_198253.3

p.S434_A436delFs

c.1302_1306del5

1 paper

NM_198253.3

p.A436T

c.1306G>A

1 paper

NM_198253.3

p.P438P

c.1314C>T

1 paper

NM_198253.3

p.P438delFs

c.1314delG

2 papers

NM_198253.3

p.V435E

c.1304T>A

1 paper

NM_198253.3

p.E439G

c.1316A>G

1 paper

NM_198253.3

p.V435L

c.1303G>T

1 paper

NM_198253.3

p.E439fs

c.1315_1316fs

2 papers

NM_198253.3

p.V435L

c.1303G>C

1 paper

NM_198253.3

p.E440K

c.1318G>A

1 paper

NM_198253.3

p.E440A

c.1319A>C