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.T566_F574del0

c.1697_1720del24

Surrounding Variants

1 paper

NM_198253.3

p.L573L

c.1719C>A

1 paper

NM_198253.3

p.N571_L573delFs

c.1713_1717del5

1 paper

NM_198253.3

p.L573F

c.1717C>T

2 papers

NM_198253.3

p.Y576H

c.1726T>C

1 paper

NM_198253.3

p.R572delFs

c.1714delT

1 paper

NM_198253.3

p.R572G

c.1714A>G

4 papers

NM_198253.3

p.R577W

c.1729C>T

1 paper

NM_198253.3

p.F575_Y576del1

c.1725_1727delTAG

1 paper

NM_198253.3

p.R577Q

c.1730G>A

1 paper

NM_198253.3

p.N571S

c.1712A>G

1 paper

NM_198253.3

p.R577R

c.1731G>A

30 papers

NM_198253.3

p.K570N

c.1710G>T