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.E565*

c.1693G>T

Surrounding Variants

1 paper

NM_198253.3

p.E565A

c.1694A>C

2 papers

NM_198253.3

p.T564S

c.1690A>T

1 paper

NM_198253.3

p.T564A

c.1690A>G

1 paper

NM_198253.3

p.V563_T564ins9

c.1687_1691ins27

8 papers

NM_198253.3

p.T567M

c.1700C>T

1 paper

NM_198253.3

p.T567T

c.1701G>A

2 papers

NM_198253.3

p.Q569*

c.1705C>T

1 paper

NM_198253.3

p.F560S

c.1679T>C

2 papers

NM_198253.3

p.K570E

c.1708A>G

1 paper

NM_198253.3

p.S559fs

c.1675_1676fs

2 papers

NM_198253.3

p.K570M

c.1709A>T

1 paper

NM_198253.3

p.K570R

c.1709A>G