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

2 papers

NM_198253.3

p.L50L

c.148C>T

Surrounding Variants

1 paper

NM_198253.3

p.L50insFs

c.148_149insA

1 paper

NM_198253.3

p.A45_R48del0

c.133_144del12

1 paper

NM_198253.3

p.L38_L50delFs

c.113_149del37

410 papers

NM_198253.3

p.A49V

c.146C>T

3 papers

NM_198253.3

p.A49E

c.146C>A

1 paper

NM_198253.3

p.V51M

c.151G>A

1 paper

NM_198253.3

p.A49T

c.145G>A

1 paper

NM_198253.3

p.F47_L50del4

c.139_149del12

1 paper

NM_198253.3

p.Q40_R48del0

c.118_144del27

4 papers

NM_198253.3

p.V51G

c.152T>G

2 papers

NM_198253.3

p.R48R

c.144C>T

1 paper

NM_198253.3

p.R48R

c.144C>G