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

1–12 of 2311 variants

1115 papers

NM_198253.3

p.C76C

c.228C>T

410 papers

NM_198253.3

p.A49V

c.146C>T

69 papers

NM_198253.3

p.H412Y

c.1234C>T

60 papers

NM_198253.3

p.A1062T

c.3184G>A

50 papers

NM_198253.3

p.V84M

c.250G>A

50 papers

NM_198253.3

p.A279T

c.835G>A

49 papers

NM_198253.3

p.G42R

c.124G>A

48 papers

NM_198253.3

p.C76*

c.228C>A

38 papers

NM_198253.3

p.R865H

c.2594G>A

36 papers

NM_198253.3

p.A202T

c.604G>A

36 papers

NM_198253.3

p.T726M

c.2177C>T

30 papers

NM_198253.3

p.K570N

c.1710G>T