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.V435L

c.1303G>T

Surrounding Variants

2 papers

NM_198253.3

p.V435L

c.1303G>C

2 papers

NM_198253.3

p.V435E

c.1304T>A

1 paper

NM_198253.3

p.A436T

c.1306G>A

3 papers

NM_198253.3

p.A436V

c.1307C>T

1 paper

NM_198253.3

p.S434_A436delFs

c.1302_1306del5

4 papers

NM_198253.3

p.G433D

c.1298G>A

1 paper

NM_198253.3

p.A437D

c.1310C>A

1 paper

NM_198253.3

p.Q432E

c.1294C>G

1 paper

NM_198253.3

p.Q432insFs

c.1294_1295insA

1 paper

NM_198253.3

p.Q432K

c.1294C>A

1 paper

NM_198253.3

p.P438P

c.1314C>T

1 paper

NM_198253.3

p.P438delFs

c.1314delG