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

4 papers

NM_198253.3

p.F47Fs

c.139delinsTTFs

Surrounding Variants

2 papers

NM_198253.3

p.F47F

c.141C>T

3 papers

NM_198253.3

p.F47L

c.141C>G

1 paper

NM_198253.3

p.F47L

c.141C>A

1 paper

NM_198253.3

p.F47Y

c.140T>A

2 papers

NM_198253.3

p.A46_F47delins

c.138_139delinsTT

2 papers

NM_198253.3

p.R48C

c.142C>T

1 paper

NM_198253.3

p.R48S

c.142C>A

1 paper

NM_198253.3

p.F47insFs

c.139_140insGA

2 papers

NM_198253.3

p.F47delins

c.139_140delinsCT

1 paper

NM_198253.3

p.D43_F47Fs

c.129_140delinsGTFs

1 paper

NM_198253.3

p.G35_A46del0

c.103_138del36

1 paper

NM_198253.3

p.R48L

c.143G>T