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.L584F

c.1752G>T

Surrounding Variants

1 paper

NM_198253.3

p.L584F

c.1752G>C

2 papers

NM_198253.3

p.L584W

c.1751T>G

1 paper

NM_198253.3

p.K583N

c.1749G>T

1 paper

NM_198253.3

p.K583N

c.1749G>C

1 paper

NM_198253.3

p.S586N

c.1757G>A

1 paper

NM_198253.3

p.W581_S582del2

c.1741_1745del6

1 paper

NM_198253.3

p.I587V

c.1759A>G

1 paper

NM_198253.3

p.I587T

c.1760T>C

2 papers

NM_198253.3

p.W581delFs

c.1743delC

2 papers

NM_198253.3

p.W581*

c.1743G>A

2 papers

NM_198253.3

p.W581*

c.1742G>A

1 paper

NM_198253.3

p.G588A

c.1763G>C