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.D712N

c.2134G>A

Surrounding Variants

1 paper

NM_198253.3

p.D712H

c.2134G>C

15 papers

NM_198253.3

p.D712A

c.2135A>C

1 paper

NM_198253.3

p.D712fs

c.2134_2135fs

1 paper

NM_198253.3

p.D712E

c.2136T>G

1 paper

NM_198253.3

p.D712E

c.2136T>A

1 paper

NM_198253.3

p.V711M

c.2131G>A

1 paper

NM_198253.3

p.D712delFs

c.2136delA

1 paper

NM_198253.3

p.V713E

c.2138T>A

1 paper

NM_198253.3

p.K710_V711Splc

c.2131-1G>A

1 paper

NM_198253.3

p.V711_V713delins

c.2133_2139delinsCGCGATC

3 papers

NM_198253.3

p.K710_V711Splc

c.2131-2A>G

3 papers

NM_198253.3

p.G715D

c.2144G>A