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.Y717F

c.2150A>T

Surrounding Variants

2 papers

NM_198253.3

p.Y717C

c.2150A>G

1 paper

NM_198253.3

p.Y717D

c.2149T>G

1 paper

NM_198253.3

p.Y717H

c.2149T>C

2 papers

NM_198253.3

p.Y717N

c.2149T>A

1 paper

NM_198253.3

p.Y717Y

c.2151C>T

2 papers

NM_198253.3

p.D718Y

c.2152G>T

8 papers

NM_198253.3

p.D718N

c.2152G>A

1 paper

NM_198253.3

p.A716A

c.2148G>A

12 papers

NM_198253.3

p.A716V

c.2147C>T

2 papers

NM_198253.3

p.A716G

c.2147C>G

1 paper

NM_198253.3

p.D718G

c.2153A>G

1 paper

NM_198253.3

p.A716S

c.2146G>T