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

5 papers

NM_198253.3

p.P112fs

c.334_335fs

Surrounding Variants

1 paper

NM_198253.3

p.E113*

c.337G>T

8 papers

NM_198253.3

p.P112insFs

c.336dupC

1 paper

NM_198253.3

p.E113K

c.337G>A

6 papers

NM_198253.3

p.P112delFs

c.336delG

1 paper

NM_198253.3

p.P112delFs

c.334_335delGG

8 papers

NM_198253.3

p.E113fs

c.337_338fs

1 paper

NM_198253.3

p.P112S

c.334C>T

2 papers

NM_198253.3

p.E113fs

c.337_338fs

1 paper

NM_198253.3

p.E113D

c.339G>C

1 paper

NM_198253.3

p.P111P

c.333C>T

1 paper

NM_198253.3

p.R108_P112Fs

c.323_336delinsAGACCCFs

1 paper

NM_198253.3

p.A114_F115insG

c.340_344ins3