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.Q454L

c.1361A>T

Surrounding Variants

1 paper

NM_198253.3

p.R453R

c.1359C>T

1 paper

NM_198253.3

p.R453P

c.1358G>C

4 papers

NM_198253.3

p.R453H

c.1358G>A

2 papers

NM_198253.3

p.H455L

c.1364A>T

1 paper

NM_198253.3

p.L452_H455delFs

c.1356_1363del8

1 paper

NM_198253.3

p.L452R

c.1355T>G

1 paper

NM_198253.3

p.L451L

c.1351C>T

1 paper

NM_198253.3

p.S457R

c.1371C>G

1 paper

NM_198253.3

p.Q450_L451insFs

c.1350_1351insG

1 paper

NM_198253.3

p.L451M

c.1351C>A

1 paper

NM_198253.3

p.P458L

c.1373C>T

1 paper

NM_198253.3

p.Q450*

c.1348C>T