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.G406R

c.1216G>A

Surrounding Variants

1 paper

NM_198253.3

p.G406R

c.1216G>C

1 paper

NM_198253.3

p.G406E

c.1217G>A

1 paper

NM_198253.3

p.Y405*

c.1215C>G

1 paper

NM_198253.3

p.G406G

c.1218G>C

1 paper

NM_198253.3

p.G406G

c.1218G>A

1 paper

NM_198253.3

p.C403_P404del2

c.1207_1211del6

1 paper

NM_198253.3

p.C403delFs

c.1209delG

4 papers

NM_198253.3

p.P404R

c.1211C>G

2 papers

NM_198253.3

p.P404H

c.1211C>A

2 papers

NM_198253.3

p.L408P

c.1223T>C

1 paper

NM_198253.3

p.C403C

c.1209C>T

1 paper

NM_198253.3

p.A401_Q402del2

c.1201_1205del6