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

2 papers

NM_198253.3

p.V461L

c.1381G>T

Surrounding Variants

2 papers

NM_198253.3

p.V461L

c.1381G>C

1 paper

NM_198253.3

p.V461E

c.1382T>A

1 paper

NM_198253.3

p.Q460Q

c.1380G>A

2 papers

NM_198253.3

p.W459*

c.1377G>A

1 paper

NM_198253.3

p.Y462C

c.1385A>G

1 paper

NM_198253.3

p.W459*

c.1376G>A

1 paper

NM_198253.3

p.Y462Y

c.1386C>T

2 papers

NM_198253.3

p.Y462*

c.1386C>G

1 paper

NM_198253.3

p.Y462fs

c.1384_1385fs

2 papers

NM_198253.3

p.Y462*

c.1386C>A

1 paper

NM_198253.3

p.P458delFs

c.1374delG

1 paper

NM_198253.3

p.G463S

c.1387G>A