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.L97delFs

c.289_290delAG

Surrounding Variants

1 paper

NM_198253.3

p.L97fs

c.289_290fs

2 papers

NM_198253.3

p.N95_L97del0

c.285_290del6

1 paper

NM_198253.3

p.R83_L97ins5

c.248_289dup42

1 paper

NM_198253.3

p.A98S

c.292G>T

1 paper

NM_198253.3

p.A98P

c.292G>C

1 paper

NM_198253.3

p.A98T

c.292G>A

2 papers

NM_198253.3

p.A98V

c.293C>T

1 paper

NM_198253.3

p.A98D

c.293C>A

1 paper

NM_198253.3

p.V96del1

c.286_288delCAC

1 paper

NM_198253.3

p.N95_V96del2

c.283_287del6

1 paper

NM_198253.3

p.F99V

c.295T>G

3 papers

NM_198253.3

p.V96L

c.286G>T