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.L103L

c.309G>A

Surrounding Variants

1 paper

NM_198253.3

p.L103L

c.309G>T

1 paper

NM_198253.3

p.L103delFs

c.307_308delAG

1 paper

NM_198253.3

p.L103M

c.307C>A

1 paper

NM_198253.3

p.A102delFs

c.306delC

1 paper

NM_198253.3

p.L104L

c.312G>C

2 papers

NM_198253.3

p.A102A

c.306G>A

1 paper

NM_198253.3

p.L104delFs

c.311delA

1 paper

NM_198253.3

p.D105Y

c.313G>T

1 paper

NM_198253.3

p.D105H

c.313G>C

2 papers

NM_198253.3

p.A102V

c.305C>T

1 paper

NM_198253.3

p.A102E

c.305C>A

1 paper

NM_198253.3

p.D105D

c.315C>T