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

2 papers

NM_198253.3

p.F1078L

c.3232T>C

Surrounding Variants

2 papers

NM_198253.3

p.A1077V

c.3230C>T

2 papers

NM_198253.3

p.F1078L

c.3234C>G

1 paper

NM_198253.3

p.A1077insFs

c.3229dupG

2 papers

NM_198253.3

p.F1078L

c.3234C>A

1 paper

NM_198253.3

p.L1079L

c.3235C>T

1 paper

NM_198253.3

p.L1079P

c.3236T>C

1 paper

NM_198253.3

p.L1079ins2

c.3236_3237ins6

1 paper

NM_198253.3

p.K1081fs

c.3241_3242fs

1 paper

NM_198253.3

p.K1081R

c.3242A>G

1 paper

NM_198253.3

p.L1073M

c.3217C>A

2 papers

NM_198253.3

p.W1072*

c.3216G>A

1 paper

NM_198253.3

p.W1072*

c.3215G>A