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.R6C

c.16C>T

Surrounding Variants

1 paper

NM_198253.3

p.R6G

c.16C>G

1 paper

NM_198253.3

p.R6delFs

c.16delG

2 papers

NM_198253.3

p.P5P

c.15C>T

1 paper

NM_198253.3

p.P5P

c.15C>G

1 paper

NM_198253.3

p.P5P

c.15C>A

2 papers

NM_198253.3

p.P5L

c.14C>T

1 paper

NM_198253.3

p.P5H

c.14C>A

2 papers

NM_198253.3

p.P5S

c.13C>T

1 paper

NM_198253.3

p.C7C

c.21C>T

1 paper

NM_198253.3

p.C7W

c.21C>G

1 paper

NM_198253.3

p.A4S

c.10G>T

2 papers

NM_198253.3

p.R8*

c.22C>T