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.L140L

c.420G>C

Surrounding Variants

2 papers

NM_198253.3

p.L139L

c.417G>C

4 papers

NM_198253.3

p.L139R

c.416T>G

10 papers

NM_198253.3

p.R142H

c.425G>A

1 paper

NM_198253.3

p.L139V

c.415C>G

1 paper

NM_198253.3

p.L139_L140insGA

c.415_419ins6

3 papers

NM_198253.3

p.G138G

c.414G>C

1 paper

NM_198253.3

p.G138E

c.413G>A

1 paper

NM_198253.3

p.R143fs

c.427_428fs

2 papers

NM_198253.3

p.G138R

c.412G>C

1 paper

NM_198253.3

p.R143P

c.428G>C

2 papers

NM_198253.3

p.G138R

c.412G>A

1 paper

NM_198253.3

p.R143R

c.429C>T