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.P186S

c.556C>T

Surrounding Variants

1 paper

NM_198253.3

p.R185Q

c.554G>A

1 paper

NM_198253.3

p.P187fs

c.559_560fs

2 papers

NM_198253.3

p.P187S

c.559C>T

2 papers

NM_198253.3

p.R185W

c.553C>T

1 paper

NM_198253.3

p.A184A

c.552C>T

1 paper

NM_198253.3

p.A184A

c.552C>A

1 paper

NM_198253.3

p.P187delFs

c.560delG

1 paper

NM_198253.3

p.Q177_T182del0

c.529_546del18

1 paper

NM_198253.3

p.P188S

c.562C>T

1 paper

NM_198253.3

p.P188P

c.564A>G

1 paper

NM_198253.3

p.P188ins3

c.563_564ins9

1 paper

NM_198253.3

p.Q183*

c.547C>T