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.G753E

c.2258G>A

Surrounding Variants

2 papers

NM_198253.3

p.G753W

c.2257G>T

1 paper

NM_198253.3

p.G753G

c.2259G>A

1 paper

NM_198253.3

p.V747_G753del7

c.2239_2258del21

4 papers

NM_198253.3

p.H752R

c.2255A>G

1 paper

NM_198253.3

p.H754P

c.2261A>C

2 papers

NM_198253.3

p.H752Y

c.2254C>T

2 papers

NM_198253.3

p.A745_A750del6

c.2233_2249del18

2 papers

NM_198253.3

p.V755I

c.2263G>A

2 papers

NM_198253.3

p.V746_A750del5

c.2236_2249del15

8 papers

NM_198253.3

p.R756C

c.2266C>T

2 papers

NM_198253.3

p.R756L

c.2267G>T

3 papers

NM_198253.3

p.R756H

c.2267G>A