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.R48R

c.144C>G

Surrounding Variants

2 papers

NM_198253.3

p.R48R

c.144C>T

1 paper

NM_198253.3

p.R48L

c.143G>T

11 papers

NM_198253.3

p.R48H

c.143G>A

1 paper

NM_198253.3

p.A49T

c.145G>A

1 paper

NM_198253.3

p.Q40_R48del0

c.118_144del27

410 papers

NM_198253.3

p.A49V

c.146C>T

2 papers

NM_198253.3

p.R48C

c.142C>T

3 papers

NM_198253.3

p.A49E

c.146C>A

1 paper

NM_198253.3

p.R48S

c.142C>A

2 papers

NM_198253.3

p.F47F

c.141C>T

3 papers

NM_198253.3

p.F47L

c.141C>G

4 papers

NM_198253.3

p.F47Fs

c.139delinsTTFs