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.Q86Q

c.258G>A

Surrounding Variants

1 paper

NM_198253.3

p.Q86H

c.258G>T

1 paper

NM_198253.3

p.Q86H

c.258G>C

3 papers

NM_198253.3

p.R87W

c.259A>T

2 papers

NM_198253.3

p.Q86*

c.256C>T

1 paper

NM_198253.3

p.L85L

c.255G>T

1 paper

NM_198253.3

p.L88L

c.262C>T

1 paper

NM_198253.3

p.L88M

c.262C>A

1 paper

NM_198253.3

p.L88P

c.263T>C

5 papers

NM_198253.3

p.L85L

c.253C>T

5 papers

NM_198253.3

p.L88L

c.264G>A

1 paper

NM_198253.3

p.L88delFs

c.263delA

2 papers

NM_198253.3

p.V84E

c.251T>A