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

2 papers

NM_198253.3

p.P174S

c.520C>T

Surrounding Variants

1 paper

NM_198253.3

p.P174L

c.521C>T

1 paper

NM_198253.3

p.L175L

c.523C>T

1 paper

NM_198253.3

p.P173S

c.517C>T

1 paper

NM_198253.3

p.L175delFs

c.523delG

1 paper

NM_198253.3

p.G172G

c.516G>T

2 papers

NM_198253.3

p.G172G

c.516G>C

3 papers

NM_198253.3

p.G172G

c.516G>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

1 paper

NM_198253.3

p.G172R

c.514G>C

1 paper

NM_198253.3

p.G172R

c.514G>A