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.R41S

c.121C>A

Surrounding Variants

3 papers

NM_198253.3

p.R41C

c.121C>T

1 paper

NM_198253.3

p.Q40H

c.120G>C

3 papers

NM_198253.3

p.R41H

c.122G>A

1 paper

NM_198253.3

p.Q40Q

c.120G>A

4 papers

NM_198253.3

p.R41R

c.123C>T

1 paper

NM_198253.3

p.R41R

c.123C>G

6 papers

NM_198253.3

p.G42W

c.124G>T

1 paper

NM_198253.3

p.G42Fs

c.124delinsTTTFs

1 paper

NM_198253.3

p.G42Fs

c.124delinsTCTFs

1 paper

NM_198253.3

p.G42R

c.124G>C

49 papers

NM_198253.3

p.G42R

c.124G>A

1 paper

NM_198253.3

p.R41delFs

c.123delG