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.M1R

c.2T>G

Surrounding Variants

5 papers

NM_198253.3

p.M1T

c.2T>C

1 paper

NM_198253.3

p.M1delFs

c.1delT

2 papers

NM_198253.3

p.M1I

c.3G>T

1 paper

NM_198253.3

p.M1_P2insFs

c.3_4insA

1 paper

NM_198253.3

p.M1_P2ins2

c.3_4ins6

2 papers

NM_198253.3

p.M1I

c.3G>C

3 papers

NM_198253.3

p.M1I

c.3G>A

3 papers

NM_198253.3

p.M1L

c.1A>T

1 paper

NM_198253.3

p.M1V

c.1A>G

3 papers

NM_198253.3

p.M1L

c.1A>C

6 papers

NM_198253.3

p.P2S

c.4C>T

1 paper

NM_198253.3

p.P2T

c.4C>A