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.R63G

c.187C>G

Surrounding Variants

4 papers

NM_198253.3

p.R63W

c.187C>T

1 paper

NM_198253.3

p.R63L

c.188G>T

1 paper

NM_198253.3

p.C54_A62Fs

c.161_186delinsCFs

1 paper

NM_198253.3

p.R63R

c.189G>C

2 papers

NM_198253.3

p.R63R

c.189G>A

1 paper

NM_198253.3

p.C54_A62delFs

c.160_184del25

4 papers

NM_198253.3

p.D61_A62delins

c.183_184delinsCT

2 papers

NM_198253.3

p.A62P

c.184G>C

1 paper

NM_198253.3

p.P64S

c.190C>T

1 paper

NM_198253.3

p.L50_R63delFs

c.150_187del38

1 paper

NM_198253.3

p.P64L

c.191C>T

2 papers

NM_198253.3

p.D61E

c.183C>G