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.E327E

c.981G>A

Surrounding Variants

1 paper

NM_198253.3

p.E327D

c.981G>T

1 paper

NM_198253.3

p.E327D

c.981G>C

1 paper

NM_198253.3

p.E327Q

c.979G>C

1 paper

NM_198253.3

p.K329fs

c.985_986fs

1 paper

NM_198253.3

p.A326V

c.977C>T

1 paper

NM_198253.3

p.A326G

c.977C>G

1 paper

NM_198253.3

p.A326D

c.977C>A

1 paper

NM_198253.3

p.P320_T328del9

c.958_983del27

1 paper

NM_198253.3

p.H330D

c.988C>G

1 paper

NM_198253.3

p.Y325C

c.974A>G

1 paper

NM_198253.3

p.Y325D

c.973T>G

2 papers

NM_198253.3

p.H330L

c.989A>T