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.R224C

c.670C>T

Surrounding Variants

1 paper

NM_198253.3

p.R224H

c.671G>A

2 papers

NM_198253.3

p.R223K

c.668G>A

2 papers

NM_198253.3

p.R224R

c.672C>A

2 papers

NM_198253.3

p.G225R

c.673G>C

2 papers

NM_198253.3

p.G225R

c.673G>A

1 paper

NM_198253.3

p.R223W

c.667A>T

1 paper

NM_198253.3

p.G225V

c.674G>T

1 paper

NM_198253.3

p.R222S

c.666G>C

1 paper

NM_198253.3

p.R222R

c.666G>A

2 papers

NM_198253.3

p.G226S

c.676G>A

1 paper

NM_198253.3

p.G226D

c.677G>A

3 papers

NM_198253.3

p.A221V

c.662C>T