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.L158L

c.474C>T

Surrounding Variants

1 paper

NM_198253.3

p.L158L

c.474C>G

1 paper

NM_198253.3

p.L158R

c.473T>G

2 papers

NM_198253.3

p.L158F

c.472C>T

1 paper

NM_198253.3

p.A157A

c.471G>A

2 papers

NM_198253.3

p.A157V

c.470C>T

1 paper

NM_198253.3

p.V160A

c.479T>C

3 papers

NM_198253.3

p.V160E

c.479T>A

2 papers

NM_198253.3

p.A157S

c.469G>T

9 papers

NM_198253.3

p.A157T

c.469G>A

2 papers

NM_198253.3

p.L161L

c.481C>T

1 paper

NM_198253.3

p.R155_V160delFs

c.464_480del17

1 paper

NM_198253.3

p.R155R

c.465C>T