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.V170L

c.508G>C

Surrounding Variants

1 paper

NM_198253.3

p.V170L

c.508G>T

10 papers

NM_198253.3

p.V170M

c.508G>A

1 paper

NM_198253.3

p.Q169L

c.506A>T

1 paper

NM_198253.3

p.V170del1

c.508_510delCAC

1 paper

NM_198253.3

p.C171F

c.512G>T

6 papers

NM_198253.3

p.C171Y

c.512G>A

1 paper

NM_198253.3

p.V170delFs

c.508_509delAC

1 paper

NM_198253.3

p.G172R

c.514G>C

1 paper

NM_198253.3

p.G172R

c.514G>A

1 paper

NM_198253.3

p.G172V

c.515G>T

1 paper

NM_198253.3

p.G172E

c.515G>A

1 paper

NM_198253.3

p.C166_V170del5

c.496_509del15