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

6 papers

NM_198253.3

p.V747delFs

c.2240delA

Surrounding Variants

10 papers

NM_198253.3

p.V747fs

c.2239_2240fs

1 paper

NM_198253.3

p.V747I

c.2239G>A

1 paper

NM_198253.3

p.Q748H

c.2244G>T

1 paper

NM_198253.3

p.Q748H

c.2244G>C

1 paper

NM_198253.3

p.K749E

c.2245A>G

1 paper

NM_198253.3

p.V746_Q748del3

c.2236_2243del9

1 paper

NM_198253.3

p.A745A

c.2235C>T

1 paper

NM_198253.3

p.R742_A745delFs

c.2225_2234del10

1 paper

NM_198253.3

p.N737_Y744del8

c.2209_2231del24

2 papers

NM_198253.3

p.V746_A750del5

c.2236_2249del15

1 paper

NM_198253.3

p.R743R

c.2229G>A

2 papers

NM_198253.3

p.R743Q

c.2228G>A