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.R143delFs

c.428delC

Surrounding Variants

1 paper

NM_198253.3

p.R143R

c.429C>T

1 paper

NM_198253.3

p.V144L

c.430G>T

1 paper

NM_198253.3

p.V144L

c.430G>C

1 paper

NM_198253.3

p.R143P

c.428G>C

20 papers

NM_198253.3

p.V144M

c.430G>A

1 paper

NM_198253.3

p.R143fs

c.427_428fs

1 paper

NM_198253.3

p.G145R

c.433G>C

10 papers

NM_198253.3

p.R142H

c.425G>A

1 paper

NM_198253.3

p.D146N

c.436G>A

1 paper

NM_198253.3

p.D146A

c.437A>C

1 paper

NM_198253.3

p.L140L

c.420G>C

2 papers

NM_198253.3

p.D146D

c.438C>T