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.A305V

c.914C>T

Surrounding Variants

26 papers

NM_198253.3

p.A305A

c.915G>A

2 papers

NM_198253.3

p.A305T

c.913G>A

1 paper

NM_198253.3

p.G306S

c.916G>A

1 paper

NM_198253.3

p.G306A

c.917G>C

1 paper

NM_198253.3

p.G306D

c.917G>A

1 paper

NM_198253.3

p.G306G

c.918C>T

1 paper

NM_198253.3

p.P307S

c.919C>T

1 paper

NM_198253.3

p.H303Q

c.909C>G

1 paper

NM_198253.3

p.H303Q

c.909C>A

1 paper

NM_198253.3

p.H303P

c.908A>C

1 paper

NM_198253.3

p.P308S

c.922C>T

1 paper

NM_198253.3

p.P308A

c.922C>G