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.E441D

c.1323G>C

Surrounding Variants

1 paper

NM_198253.3

p.E441D

c.1323G>T

1 paper

NM_198253.3

p.E441fs

c.1321_1322fs

1 paper

NM_198253.3

p.D442N

c.1324G>A

1 paper

NM_198253.3

p.E441V

c.1322A>T

3 papers

NM_198253.3

p.D442G

c.1325A>G

1 paper

NM_198253.3

p.E441delFs

c.1323delC

24 papers

NM_198253.3

p.E441del1

c.1321_1322delCTC

1 paper

NM_198253.3

p.E440A

c.1319A>C

1 paper

NM_198253.3

p.E441_D442del2

c.1321_1325del6

1 paper

NM_198253.3

p.E440K

c.1318G>A

1 paper

NM_198253.3

p.E439fs

c.1315_1316fs

1 paper

NM_198253.3

p.D444Y

c.1330G>T