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

3 papers

NM_198253.3

p.G211R

c.631G>A

Surrounding Variants

3 papers

NM_198253.3

p.G211R

c.631G>C

1 paper

NM_198253.3

p.A210A

c.630C>T

2 papers

NM_198253.3

p.A210D

c.629C>A

1 paper

NM_198253.3

p.A210T

c.628G>A

1 paper

NM_198253.3

p.V212A

c.635T>C

1 paper

NM_198253.3

p.V212V

c.636C>T

1 paper

NM_198253.3

p.E209V

c.626A>T

4 papers

NM_198253.3

p.P213S

c.637C>T

1 paper

NM_198253.3

p.P213_L214insT

c.637_641ins3

1 paper

NM_198253.3

p.R208M

c.623G>T

1 paper

NM_198253.3

p.R208K

c.623G>A

1 paper

NM_198253.3

p.V207delFs

c.620_621delGA