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

4 papers

NM_198253.3

p.R446S

c.1336C>A

Surrounding Variants

2 papers

NM_198253.3

p.R446fs

c.1336_1337fs

1 paper

NM_198253.3

p.R446C

c.1336C>T

2 papers

NM_198253.3

p.R446G

c.1336C>G

3 papers

NM_198253.3

p.R446insFs

c.1336_1337insC

1 paper

NM_198253.3

p.R446H

c.1337G>A

2 papers

NM_198253.3

p.R447C

c.1339C>T

2 papers

NM_198253.3

p.R447H

c.1340G>A

1 paper

NM_198253.3

p.E439_T443del5

c.1315_1328del15

1 paper

NM_198253.3

p.D444A

c.1331A>C

1 paper

NM_198253.3

p.D444Y

c.1330G>T

1 paper

NM_198253.3

p.E441_D442del2

c.1321_1325del6

24 papers

NM_198253.3

p.E441del1

c.1321_1322delCTC