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.S731S

c.2193C>T

Surrounding Variants

1 paper

NM_198253.3

p.I732T

c.2195T>C

1 paper

NM_198253.3

p.A730A

c.2190C>T

1 paper

NM_198253.3

p.A730P

c.2188G>C

2 papers

NM_198253.3

p.A730T

c.2188G>A

2 papers

NM_198253.3

p.L725_I729Fs

c.2173_2187delinsACAGFs

1 paper

NM_198253.3

p.V728delFs

c.2184delG

1 paper

NM_198253.3

p.I729_K734delins

c.2187_2202delinsACAG

1 paper

NM_198253.3

p.Q736E

c.2206C>G

1 paper

NM_198253.3

p.Q736K

c.2206C>A

1 paper

NM_198253.3

p.E727K

c.2179G>A

1 paper

NM_198253.3

p.Q736H

c.2208G>C

3 papers

NM_198253.3

p.T726T

c.2178G>A