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.L415L

c.1243C>T

Surrounding Variants

1 paper

NM_198253.3

p.L415M

c.1243C>A

1 paper

NM_198253.3

p.P414P

c.1242G>C

1 paper

NM_198253.3

p.L415L

c.1245G>A

1 paper

NM_198253.3

p.P414L

c.1241C>T

4 papers

NM_198253.3

p.R416*

c.1246C>T

1 paper

NM_198253.3

p.R416L

c.1247G>T

1 paper

NM_198253.3

p.C413F

c.1238G>T

1 paper

NM_198253.3

p.H412insFs

c.1236dupC

1 paper

NM_198253.3

p.T411_H412delFs

c.1231_1234del4

1 paper

NM_198253.3

p.A417V

c.1250C>T

1 paper

NM_198253.3

p.H412H

c.1236C>T

69 papers

NM_198253.3

p.H412Y

c.1234C>T