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

3 papers

NM_198253.3

p.T116T

c.348C>T

Surrounding Variants

3 papers

NM_198253.3

p.T116I

c.347C>T

2 papers

NM_198253.3

p.T117A

c.349A>G

1 paper

NM_198253.3

p.T117I

c.350C>T

1 paper

NM_198253.3

p.T117N

c.350C>A

1 paper

NM_198253.3

p.T116A

c.346A>G

1 paper

NM_198253.3

p.A114_F115del2

c.340_344del6

3 papers

NM_198253.3

p.F115L

c.345C>G

3 papers

NM_198253.3

p.F115L

c.345C>A

1 paper

NM_198253.3

p.F115Y

c.344T>A

1 paper

NM_198253.3

p.T117delFs

c.351delG

3 papers

NM_198253.3

p.F115L

c.343T>C

1 paper

NM_198253.3

p.F115I

c.343T>A