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.L557P

c.1670T>C

Surrounding Variants

1 paper

NM_198253.3

p.L557delFs

c.1669delG

1 paper

NM_198253.3

p.L556insFs

c.1667dupT

1 paper

NM_198253.3

p.R558G

c.1672A>G

1 paper

NM_198253.3

p.S559fs

c.1675_1676fs

1 paper

NM_198253.3

p.E555Q

c.1663G>C

2 papers

NM_198253.3

p.E555K

c.1663G>A

1 paper

NM_198253.3

p.F560S

c.1679T>C

2 papers

NM_198253.3

p.V554I

c.1660G>A

1 paper

NM_198253.3

p.V553V

c.1659C>T

2 papers

NM_198253.3

p.V553I

c.1657G>A

1 paper

NM_198253.3

p.V563_T564ins9

c.1687_1691ins27

2 papers

NM_198253.3

p.T564S

c.1690A>T