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.S295F

c.884C>T

Surrounding Variants

3 papers

NM_198253.3

p.H294H

c.882C>T

1 paper

NM_198253.3

p.H296D

c.886C>G

1 paper

NM_198253.3

p.H294Q

c.882C>G

4 papers

NM_198253.3

p.H296P

c.887A>C

1 paper

NM_198253.3

p.H294Y

c.880C>T

1 paper

NM_198253.3

p.R293H

c.878G>A

1 paper

NM_198253.3

p.G291_T292delFs

c.872_875del4

1 paper

NM_198253.3

p.P297L

c.890C>T

3 papers

NM_198253.3

p.T292M

c.875C>T

1 paper

NM_198253.3

p.S298F

c.893C>T

1 paper

NM_198253.3

p.T292K

c.875C>A

1 paper

NM_198253.3

p.S298S

c.894C>T