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.E209V

c.626A>T

Surrounding Variants

1 paper

NM_198253.3

p.A210T

c.628G>A

1 paper

NM_198253.3

p.R208M

c.623G>T

1 paper

NM_198253.3

p.R208K

c.623G>A

2 papers

NM_198253.3

p.A210D

c.629C>A

1 paper

NM_198253.3

p.A210A

c.630C>T

1 paper

NM_198253.3

p.V207delFs

c.620_621delGA

1 paper

NM_198253.3

p.G198_V207del10

c.592_620del30

3 papers

NM_198253.3

p.G211R

c.631G>C

3 papers

NM_198253.3

p.G211R

c.631G>A

1 paper

NM_198253.3

p.V207V

c.621C>G

1 paper

NM_198253.3

p.V207D

c.620T>A

1 paper

NM_198253.3

p.V207L

c.619G>C