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.C199S

c.596G>C

Surrounding Variants

2 papers

NM_198253.3

p.C199Y

c.596G>A

2 papers

NM_198253.3

p.C199C

c.597C>T

1 paper

NM_198253.3

p.C199*

c.597C>A

2 papers

NM_198253.3

p.G198G

c.594A>G

1 paper

NM_198253.3

p.G198A

c.593G>C

1 paper

NM_198253.3

p.E200insFs

c.599_600insT

1 paper

NM_198253.3

p.G198*

c.592G>T

1 paper

NM_198253.3

p.G198R

c.592G>C

1 paper

NM_198253.3

p.G198R

c.592G>A

1 paper

NM_198253.3

p.E200D

c.600A>T

1 paper

NM_198253.3

p.L197L

c.591G>T

1 paper

NM_198253.3

p.L197_G198ins2

c.591_592ins6