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.G1094_R1097del4

c.3280_3290del12

Surrounding Variants

1 paper

NM_198253.3

p.T1098insFs

c.3292_3293insG

1 paper

NM_198253.3

p.R1097fs

c.3289_3290fs

1 paper

NM_198253.3

p.R1097K

c.3290G>A

1 paper

NM_198253.3

p.T1098fs

c.3292_3293fs

1 paper

NM_198253.3

p.L1096_R1097insFs

c.3288_3289insG

1 paper

NM_198253.3

p.L1096F

c.3286C>T

2 papers

NM_198253.3

p.A1099Splc

c.3295+5G>T

1 paper

NM_198253.3

p.L1092I

c.3274C>A

1 paper

NM_198253.3

p.V1090fs

c.3268_3269fs

1 paper

NM_198253.3

p.V1090L

c.3268G>T

24 papers

NM_198253.3

p.V1090M

c.3268G>A

1 paper

NM_198253.3

p.T1088A

c.3262A>G