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.S761N

c.2282G>A

Surrounding Variants

1 paper

NM_198253.3

p.H762_V763insGA

c.2284_2288ins6

1 paper

NM_198253.3

p.K760R

c.2279A>G

1 paper

NM_198253.3

p.K760T

c.2279A>C

1 paper

NM_198253.3

p.K760*

c.2278A>T

1 paper

NM_198253.3

p.K760E

c.2278A>G

1 paper

NM_198253.3

p.H762_V763Splc

c.2286+1G>T

1 paper

NM_198253.3

p.H762_V763Splc

c.2286+1G>C

5 papers

NM_198253.3

p.H762_V763Splc

c.2286+1G>A

1 paper

NM_198253.3

p.H762_V763Splc

c.2286+2T>A

1 paper

NM_198253.3

p.A758P

c.2272G>C

2 papers

NM_198253.3

p.K757R

c.2270A>G

1 paper

NM_198253.3

p.K757E

c.2269A>G