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.S496S

c.1488C>T

Surrounding Variants

2 papers

NM_198253.3

p.S496F

c.1487C>T

1 paper

NM_198253.3

p.L497R

c.1490T>G

1 paper

NM_198253.3

p.G498W

c.1492G>T

1 paper

NM_198253.3

p.G498R

c.1492G>C

1 paper

NM_198253.3

p.G498R

c.1492G>A

1 paper

NM_198253.3

p.G498_K499ins1

c.1494_1495insAAG

1 paper

NM_198253.3

p.F494S

c.1481T>C

1 paper

NM_198253.3

p.K499E

c.1495A>G

1 paper

NM_198253.3

p.K499Q

c.1495A>C

1 paper

NM_198253.3

p.K499N

c.1497G>T

1 paper

NM_198253.3

p.K499N

c.1497G>C

1 paper

NM_198253.3

p.H500Y

c.1498C>T