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

4 papers

NM_198253.3

p.V119L

c.355G>T

Surrounding Variants

3 papers

NM_198253.3

p.V119L

c.355G>C

4 papers

NM_198253.3

p.V119M

c.355G>A

1 paper

NM_198253.3

p.V119V

c.357G>A

1 paper

NM_198253.3

p.S118N

c.353G>A

1 paper

NM_198253.3

p.T116_S118delFs

c.348_352del5

1 paper

NM_198253.3

p.T117delFs

c.351delG

2 papers

NM_198253.3

p.R120H

c.359G>A

1 paper

NM_198253.3

p.T117I

c.350C>T

1 paper

NM_198253.3

p.T117N

c.350C>A

6 papers

NM_198253.3

p.S121G

c.361A>G

2 papers

NM_198253.3

p.T117A

c.349A>G

3 papers

NM_198253.3

p.T116T

c.348C>T