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

3 papers

NM_198253.3

p.V28insFs

c.83dupT

Surrounding Variants

4 papers

NM_198253.3

p.V28G

c.83T>G

1 paper

NM_198253.3

p.R29W

c.85C>T

1 paper

NM_198253.3

p.R29G

c.85C>G

1 paper

NM_198253.3

p.R29Q

c.86G>A

1 paper

NM_198253.3

p.V28M

c.82G>A

1 paper

NM_198253.3

p.R29R

c.87G>T

1 paper

NM_198253.3

p.R29fs

c.85_86fs

1 paper

NM_198253.3

p.F27F

c.81C>T

1 paper

NM_198253.3

p.F27L

c.81C>G

3 papers

NM_198253.3

p.F27insFs

c.79dupT

1 paper

NM_198253.3

p.F27L

c.81C>A

1 paper

NM_198253.3

p.F27Y

c.80T>A