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

2 papers

NM_198253.3

p.R3H

c.8G>A

Surrounding Variants

4 papers

NM_198253.3

p.R3R

c.9C>T

2 papers

NM_198253.3

p.R3C

c.7C>T

1 paper

NM_198253.3

p.R3insFs

c.8_9ins16

1 paper

NM_198253.3

p.R3R

c.9C>A

1 paper

NM_198253.3

p.R3S

c.7C>A

1 paper

NM_198253.3

p.A4S

c.10G>T

1 paper

NM_198253.3

p.P2insFs

c.4dupC

1 paper

NM_198253.3

p.P2P

c.6G>C

2 papers

NM_198253.3

p.P2P

c.6G>A

2 papers

NM_198253.3

p.P2L

c.5C>T

2 papers

NM_198253.3

p.P2R

c.5C>G

6 papers

NM_198253.3

p.P2S

c.4C>T