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.T491S

c.1472C>G

Surrounding Variants

1 paper

NM_198253.3

p.T491N

c.1472C>A

1 paper

NM_198253.3

p.T491S

c.1471A>T

1 paper

NM_198253.3

p.N490H

c.1468A>C

1 paper

NM_198253.3

p.R489K

c.1466G>A

1 paper

NM_198253.3

p.F494S

c.1481T>C

1 paper

NM_198253.3

p.F487F

c.1461C>T

3 papers

NM_198253.3

p.R486H

c.1457G>A

2 papers

NM_198253.3

p.S496F

c.1487C>T

10 papers

NM_198253.3

p.R486C

c.1456C>T

1 paper

NM_198253.3

p.S496S

c.1488C>T

1 paper

NM_198253.3

p.R486_F487insA

c.1456_1460ins3

1 paper

NM_198253.3

p.L497R

c.1490T>G