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.S274L

c.821C>T

Surrounding Variants

1 paper

NM_198253.3

p.P275S

c.823C>T

1 paper

NM_198253.3

p.P275L

c.824C>T

1 paper

NM_198253.3

p.A276T

c.826G>A

1 paper

NM_198253.3

p.P275delFs

c.825delA

2 papers

NM_198253.3

p.A276V

c.827C>T

1 paper

NM_198253.3

p.A276G

c.827C>G

3 papers

NM_198253.3

p.V272M

c.814G>A

1 paper

NM_198253.3

p.R277T

c.830G>C

2 papers

NM_198253.3

p.R277K

c.830G>A

1 paper

NM_198253.3

p.C271Y

c.812G>A

1 paper

NM_198253.3

p.F270insFs

c.810dupC

1 paper

NM_198253.3

p.R277S

c.831A>T