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.S579N

c.1736G>A

Surrounding Variants

1 paper

NM_198253.3

p.K578N

c.1734G>T

1 paper

NM_198253.3

p.K578N

c.1734G>C

1 paper

NM_198253.3

p.V580A

c.1739T>C

2 papers

NM_198253.3

p.K578R

c.1733A>G

1 paper

NM_198253.3

p.R577R

c.1731G>A

2 papers

NM_198253.3

p.W581*

c.1742G>A

1 paper

NM_198253.3

p.R577Q

c.1730G>A

2 papers

NM_198253.3

p.W581*

c.1743G>A

4 papers

NM_198253.3

p.R577W

c.1729C>T

1 paper

NM_198253.3

p.F575_Y576del1

c.1725_1727delTAG

2 papers

NM_198253.3

p.W581delFs

c.1743delC

2 papers

NM_198253.3

p.Y576H

c.1726T>C