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.H258H

c.774C>T

Surrounding Variants

1 paper

NM_198253.3

p.P259L

c.776C>T

1 paper

NM_198253.3

p.H258Y

c.772C>T

2 papers

NM_198253.3

p.A257S

c.769G>T

1 paper

NM_198253.3

p.G260A

c.779G>C

7 papers

NM_198253.3

p.G260D

c.779G>A

1 paper

NM_198253.3

p.W256*

c.767G>A

1 paper

NM_198253.3

p.G254_S255insFs

c.762_763insGA

1 paper

NM_198253.3

p.S255A

c.763T>G

2 papers

NM_198253.3

p.T262M

c.785C>T

3 papers

NM_198253.3

p.G254E

c.761G>A

1 paper

NM_198253.3

p.R263H

c.788G>A

1 paper

NM_198253.3

p.R263R

c.789T>A