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

4 papers

NM_198253.3

p.Q177*

c.529C>T

Surrounding Variants

2 papers

NM_198253.3

p.Y176*

c.528C>G

1 paper

NM_198253.3

p.Q177R

c.530A>G

1 paper

NM_198253.3

p.Q177Q

c.531G>A

1 paper

NM_198253.3

p.Q177delFs

c.529_530delTG

1 paper

NM_198253.3

p.Y176C

c.527A>G

3 papers

NM_198253.3

p.L178F

c.532C>T

1 paper

NM_198253.3

p.L175delFs

c.523delG

1 paper

NM_198253.3

p.L178L

c.534C>T

1 paper

NM_198253.3

p.L175L

c.523C>T

1 paper

NM_198253.3

p.G179A

c.536G>C

1 paper

NM_198253.3

p.G179D

c.536G>A

1 paper

NM_198253.3

p.L178_G179delFs

c.534_535delCG