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.S16R

c.48C>A

Surrounding Variants

1 paper

NM_198253.3

p.S16R

c.48C>G

1 paper

NM_198253.3

p.S16insFs

c.47dupG

1 paper

NM_198253.3

p.S16T

c.47G>C

1 paper

NM_198253.3

p.S16R

c.46A>C

1 paper

NM_198253.3

p.H17H

c.51C>T

1 paper

NM_198253.3

p.R15R

c.45C>T

1 paper

NM_198253.3

p.H17Q

c.51C>G

1 paper

NM_198253.3

p.H17Q

c.51C>A

1 paper

NM_198253.3

p.R15R

c.45C>A

1 paper

NM_198253.3

p.S16_H17delFs

c.47_50del4

1 paper

NM_198253.3

p.Y18H

c.52T>C

2 papers

NM_198253.3

p.R15P

c.44G>C