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.E429K

c.1285G>A

Surrounding Variants

1 paper

NM_198253.3

p.E429G

c.1286A>G

1 paper

NM_198253.3

p.E429delFs

c.1285delC

2 papers

NM_198253.3

p.R428L

c.1283G>T

1 paper

NM_198253.3

p.K430*

c.1288A>T

1 paper

NM_198253.3

p.A427S

c.1279G>T

1 paper

NM_198253.3

p.P431S

c.1291C>T

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.V425V

c.1275C>T

4 papers

NM_198253.3

p.G433D

c.1298G>A

7 papers

NM_198253.3

p.G424S

c.1270G>A