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.G32_P33ins0

c.94_99dup6

Surrounding Variants

5 papers

NM_198253.3

p.Q34*

c.100C>T

2 papers

NM_198253.3

p.P33P

c.99C>T

1 paper

NM_198253.3

p.Q34H

c.102G>T

2 papers

NM_198253.3

p.Q34insFs

c.101dupA

1 paper

NM_198253.3

p.Q34Q

c.102G>A

2 papers

NM_198253.3

p.P33L

c.98C>T

2 papers

NM_198253.3

p.P33R

c.98C>G

3 papers

NM_198253.3

p.P33H

c.98C>A

1 paper

NM_198253.3

p.G35C

c.103G>T

3 papers

NM_198253.3

p.G35R

c.103G>C

3 papers

NM_198253.3

p.G35S

c.103G>A

15 papers

NM_198253.3

p.P33S

c.97C>T