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.E245*

c.733G>T

Surrounding Variants

2 papers

NM_198253.3

p.E245K

c.733G>A

1 paper

NM_198253.3

p.P244L

c.731C>T

1 paper

NM_198253.3

p.P246fs

c.736_737fs

2 papers

NM_198253.3

p.A243V

c.728C>T

1 paper

NM_198253.3

p.E247*

c.739G>T

1 paper

NM_198253.3

p.A243S

c.727G>T

1 paper

NM_198253.3

p.A243T

c.727G>A

2 papers

NM_198253.3

p.E247G

c.740A>G

1 paper

NM_198253.3

p.E247insFs

c.740_741insC

1 paper

NM_198253.3

p.A242S

c.724G>T

3 papers

NM_198253.3

p.A242T

c.724G>A

1 paper

NM_198253.3

p.R248fs

c.742_743fs