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.L409L

c.1227C>T

Surrounding Variants

1 paper

NM_198253.3

p.L409L

c.1227C>G

1 paper

NM_198253.3

p.L409P

c.1226T>C

2 papers

NM_198253.3

p.L408P

c.1223T>C

1 paper

NM_198253.3

p.T411A

c.1231A>G

1 paper

NM_198253.3

p.T411M

c.1232C>T

69 papers

NM_198253.3

p.H412Y

c.1234C>T

1 paper

NM_198253.3

p.H412N

c.1234C>A

1 paper

NM_198253.3

p.G406G

c.1218G>C

1 paper

NM_198253.3

p.G406G

c.1218G>A

1 paper

NM_198253.3

p.H412H

c.1236C>T

1 paper

NM_198253.3

p.H412insFs

c.1236dupC

1 paper

NM_198253.3

p.T411_H412delFs

c.1231_1234del4