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.L216M

c.646C>A

Surrounding Variants

1 paper

NM_198253.3

p.L216L

c.648G>A

1 paper

NM_198253.3

p.P217T

c.649C>A

2 papers

NM_198253.3

p.A218V

c.653C>T

4 papers

NM_198253.3

p.P213S

c.637C>T

1 paper

NM_198253.3

p.P219S

c.655C>T

1 paper

NM_198253.3

p.P213_L214insT

c.637_641ins3

1 paper

NM_198253.3

p.P219L

c.656C>T

1 paper

NM_198253.3

p.V212V

c.636C>T

1 paper

NM_198253.3

p.V212A

c.635T>C

1 paper

NM_198253.3

p.G220S

c.658G>A

7 papers

NM_198253.3

p.G220D

c.659G>A

1 paper

NM_198253.3

p.G220fs

c.658_659fs