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.A114_F115insG

c.340_344ins3

Surrounding Variants

1 paper

NM_198253.3

p.A114P

c.340G>C

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.A114V

c.341C>T

2 papers

NM_198253.3

p.G110_E113del4

c.328_338del12

3 papers

NM_198253.3

p.F115L

c.343T>C

1 paper

NM_198253.3

p.F115I

c.343T>A

1 paper

NM_198253.3

p.L103_A114del12

c.307_341del36

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