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.R194P

c.581G>C

Surrounding Variants

2 papers

NM_198253.3

p.R194Q

c.581G>A

3 papers

NM_198253.3

p.R194*

c.580C>T

1 paper

NM_198253.3

p.P193_R194delins

c.579_580delinsTT

1 paper

NM_198253.3

p.P193L

c.578C>T

1 paper

NM_198253.3

p.P193S

c.577C>T

1 paper

NM_198253.3

p.P193A

c.577C>G

3 papers

NM_198253.3

p.R196C

c.586C>T

1 paper

NM_198253.3

p.R196L

c.587G>T

3 papers

NM_198253.3

p.R196P

c.587G>C

1 paper

NM_198253.3

p.R196H

c.587G>A

1 paper

NM_198253.3

p.R196R

c.588T>G

1 paper

NM_198253.3

p.R195_R196delFs

c.585_588del4