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.S12_L13delFs

c.36_37delGG

Surrounding Variants

1 paper

NM_198253.3

p.L13L

c.39G>C

1 paper

NM_198253.3

p.S12_L13delFs

c.35_38del4

1 paper

NM_198253.3

p.L13M

c.37C>A

2 papers

NM_198253.3

p.L14L

c.40C>T

2 papers

NM_198253.3

p.S12S

c.36C>T

1 paper

NM_198253.3

p.L14V

c.40C>G

1 paper

NM_198253.3

p.S12fs

c.34_35fs

1 paper

NM_198253.3

p.L14M

c.40C>A

7 papers

NM_198253.3

p.L14Q

c.41T>A

1 paper

NM_198253.3

p.S12F

c.35C>T

4 papers

NM_198253.3

p.S12Y

c.35C>A

2 papers

NM_198253.3

p.L14L

c.42G>C