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.G110D

c.329G>A

Surrounding Variants

8 papers

NM_198253.3

p.G110A

c.329G>C

1 paper

NM_198253.3

p.A107_G110del0

c.320_328del9

1 paper

NM_198253.3

p.G110C

c.328G>T

1 paper

NM_198253.3

p.G109G

c.327G>A

1 paper

NM_198253.3

p.P111A

c.331C>G

3 papers

NM_198253.3

p.P111T

c.331C>A

1 paper

NM_198253.3

p.G109A

c.326G>C

2 papers

NM_198253.3

p.P111L

c.332C>T

1 paper

NM_198253.3

p.P111H

c.332C>A

3 papers

NM_198253.3

p.G109W

c.325G>T

1 paper

NM_198253.3

p.P111P

c.333C>T

1 paper

NM_198253.3

p.R108_P112Fs

c.323_336delinsAGACCCFs