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.G100insFs

c.298_299insCA

Surrounding Variants

1 paper

NM_198253.3

p.G100R

c.298G>C

2 papers

NM_198253.3

p.G100S

c.298G>A

7 papers

NM_198253.3

p.G100V

c.299G>T

1 paper

NM_198253.3

p.G100A

c.299G>C

2 papers

NM_198253.3

p.G100D

c.299G>A

1 paper

NM_198253.3

p.F99F

c.297C>T

1 paper

NM_198253.3

p.G100G

c.300C>T

1 paper

NM_198253.3

p.F101V

c.301T>G

1 paper

NM_198253.3

p.F99V

c.295T>G

2 papers

NM_198253.3

p.G100del1

c.298_300delGCC

2 papers

NM_198253.3

p.A98V

c.293C>T

1 paper

NM_198253.3

p.F101F

c.303C>T