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.L153_L161del9

c.457_482del27

Surrounding Variants

1 paper

NM_198253.3

p.V162_A163insGAG

c.484_488ins9

2 papers

NM_198253.3

p.V162M

c.484G>A

1 paper

NM_198253.3

p.V162A

c.485T>C

1 paper

NM_198253.3

p.L161delFs

c.483delC

1 paper

NM_198253.3

p.V162_A163insFs

c.486_487insA

2 papers

NM_198253.3

p.L161L

c.481C>T

1 paper

NM_198253.3

p.R155_V160delFs

c.464_480del17

1 paper

NM_198253.3

p.V160A

c.479T>C

3 papers

NM_198253.3

p.V160E

c.479T>A

1 paper

NM_198253.3

p.S165G

c.493A>G

1 paper

NM_198253.3

p.L158L

c.474C>T

1 paper

NM_198253.3

p.L158L

c.474C>G