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.P352insFs

c.1054dupC

Surrounding Variants

1 paper

NM_198253.3

p.P352P

c.1056C>T

1 paper

NM_198253.3

p.S353R

c.1059C>G

1 paper

NM_198253.3

p.S348_P352del5

c.1042_1055del15

1 paper

NM_198253.3

p.T355fs

c.1063_1064fs

1 paper

NM_198253.3

p.R351W

c.1051A>T

1 paper

NM_198253.3

p.T355A

c.1063A>G

1 paper

NM_198253.3

p.L350fs

c.1048_1049fs

1 paper

NM_198253.3

p.L350delFs

c.1048_1049delAG

1 paper

NM_198253.3

p.L350P

c.1049T>C

1 paper

NM_198253.3

p.G356R

c.1066G>C

1 paper

NM_198253.3

p.T355delFs

c.1064_1065delAG

2 papers

NM_198253.3

p.T355del1

c.1063_1064delAGT