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.R315H

c.944G>A

Surrounding Variants

1 paper

NM_198253.3

p.P316T

c.946C>A

1 paper

NM_198253.3

p.P316L

c.947C>T

1 paper

NM_198253.3

p.P316P

c.948C>T

1 paper

NM_198253.3

p.P314_R315del2

c.940_944del6

1 paper

NM_198253.3

p.W317*

c.950G>A

1 paper

NM_198253.3

p.P313L

c.938C>T

1 paper

NM_198253.3

p.W317*

c.951G>A

1 paper

NM_198253.3

p.R312R

c.936G>C

2 papers

NM_198253.3

p.D318N

c.952G>A

1 paper

NM_198253.3

p.R312W

c.934C>T

1 paper

NM_198253.3

p.S311del1

c.931_932delCGA

2 papers

NM_198253.3

p.T319M

c.956C>T