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.R108S

c.322C>A

Surrounding Variants

1 paper

NM_198253.3

p.R108C

c.322C>T

1 paper

NM_198253.3

p.R108L

c.323G>T

1 paper

NM_198253.3

p.A107insFs

c.320dupC

1 paper

NM_198253.3

p.R108P

c.323G>C

4 papers

NM_198253.3

p.R108H

c.323G>A

1 paper

NM_198253.3

p.A107A

c.321C>A

1 paper

NM_198253.3

p.A107G

c.320C>G

1 paper

NM_198253.3

p.G92_G106del15

c.274_317del45

3 papers

NM_198253.3

p.G109W

c.325G>T

1 paper

NM_198253.3

p.G109A

c.326G>C

1 paper

NM_198253.3

p.G109G

c.327G>A

2 papers

NM_198253.3

p.G106W

c.316G>T