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.T310fs

c.928_929fs

Surrounding Variants

1 paper

NM_198253.3

p.T310I

c.929C>T

1 paper

NM_198253.3

p.S311W

c.932C>G

1 paper

NM_198253.3

p.R312W

c.934C>T

1 paper

NM_198253.3

p.S309F

c.926C>T

1 paper

NM_198253.3

p.S311del1

c.931_932delCGA

1 paper

NM_198253.3

p.P307_P308del2

c.919_923del6

1 paper

NM_198253.3

p.R312R

c.936G>C

2 papers

NM_198253.3

p.P308P

c.924A>T

1 paper

NM_198253.3

p.P308P

c.924A>C

1 paper

NM_198253.3

p.P308Q

c.923C>A

1 paper

NM_198253.3

p.P313L

c.938C>T

1 paper

NM_198253.3

p.P308S

c.922C>T