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

3 papers

NM_198253.3

p.K78*

c.232A>T

Surrounding Variants

9 papers

NM_198253.3

p.K78E

c.232A>G

1 paper

NM_198253.3

p.S75_C76delFs

c.224_227del4

2 papers

NM_198253.3

p.K78R

c.233A>G

3 papers

NM_198253.3

p.L77P

c.230T>C

1 paper

NM_198253.3

p.C76delFs

c.228delG

1 paper

NM_198253.3

p.K78N

c.234G>T

1 paper

NM_198253.3

p.K78N

c.234G>C

2 papers

NM_198253.3

p.K78K

c.234G>A

2 papers

NM_198253.3

p.E79K

c.235G>A

15 papers

NM_198253.3

p.L77L

c.229C>T

2 papers

NM_198253.3

p.L77V

c.229C>G

4 papers

NM_198253.3

p.L77M

c.229C>A