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.V39V

c.117G>A

Surrounding Variants

1 paper

NM_198253.3

p.V39_Q40insFs

c.117_118ins7

1 paper

NM_198253.3

p.V39_Q40insFs

c.117_118ins11

1 paper

NM_198253.3

p.V39V

c.117G>C

1 paper

NM_198253.3

p.V39E

c.116T>A

1 paper

NM_198253.3

p.L38_V39delFs

c.114_115delCC

2 papers

NM_198253.3

p.R37_L38delFs

c.110_113del4

1 paper

NM_198253.3

p.G35_L38del0

c.103_114del12

2 papers

NM_198253.3

p.Q40*

c.118C>T

2 papers

NM_198253.3

p.V39M

c.115G>A

1 paper

NM_198253.3

p.Q40H

c.120G>C

1 paper

NM_198253.3

p.Q40Q

c.120G>A

2 papers

NM_198253.3

p.L38delFs

c.112delG