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.Q53L

c.158A>T

Surrounding Variants

1 paper

NM_198253.3

p.Q53R

c.158A>G

1 paper

NM_198253.3

p.Q53Q

c.159G>A

1 paper

NM_198253.3

p.P44_Q53del0

c.132_158del27

3 papers

NM_198253.3

p.A52A

c.156C>T

1 paper

NM_198253.3

p.A52A

c.156C>A

1 paper

NM_198253.3

p.C54Y

c.161G>A

1 paper

NM_198253.3

p.V51delFs

c.153delC

1 paper

NM_198253.3

p.A52T

c.154G>A

1 paper

NM_198253.3

p.C54C

c.162C>T

1 paper

NM_198253.3

p.C54*

c.162C>A

1 paper

NM_198253.3

p.V51_C54del0

c.153_161del9

1 paper

NM_198253.3

p.V51V

c.153G>A