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.L153M

c.457C>A

Surrounding Variants

1 paper

NM_198253.3

p.L153L

c.457C>T

1 paper

NM_198253.3

p.L153del1

c.457_458delCAG

1 paper

NM_198253.3

p.L152M

c.454C>A

1 paper

NM_198253.3

p.H151H

c.453C>T

5 papers

NM_198253.3

p.R155C

c.463C>T

1 paper

NM_198253.3

p.H151Y

c.451C>T

1 paper

NM_198253.3

p.H151N

c.451C>A

3 papers

NM_198253.3

p.R155H

c.464G>A

1 paper

NM_198253.3

p.R155R

c.465C>T

1 paper

NM_198253.3

p.V150I

c.448G>A

1 paper

NM_198253.3

p.L149L

c.447G>A

1 paper

NM_198253.3

p.L149P

c.446T>C