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.T26K

c.77C>A

Surrounding Variants

3 papers

NM_198253.3

p.T26M

c.77C>T

1 paper

NM_198253.3

p.T26insFs

c.76dupA

1 paper

NM_198253.3

p.T26T

c.78G>A

1 paper

NM_198253.3

p.T26A

c.76A>G

1 paper

NM_198253.3

p.A25delFs

c.74delG

1 paper

NM_198253.3

p.A25del1

c.73_75delGGC

1 paper

NM_198253.3

p.F27insFs

c.79_80insCG

1 paper

NM_198253.3

p.F27_V28ins6

c.79_83ins18

1 paper

NM_198253.3

p.F27L

c.79T>C

1 paper

NM_198253.3

p.F27I

c.79T>A

1 paper

NM_198253.3

p.A25A

c.75C>T

1 paper

NM_198253.3

p.F27Y

c.80T>A