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.F393F

c.1179T>C

Surrounding Variants

1 paper

NM_198253.3

p.L392delFs

c.1174_1175delAG

1 paper

NM_198253.3

p.L392P

c.1175T>C

1 paper

NM_198253.3

p.R385_P391del7

c.1153_1172del21

2 papers

NM_198253.3

p.L392fs

c.1174_1175fs

2 papers

NM_198253.3

p.P391L

c.1172C>T

1 paper

NM_198253.3

p.P391H

c.1172C>A

1 paper

NM_198253.3

p.P391S

c.1171C>T

1 paper

NM_198253.3

p.Q388_R390del0

c.1164_1169del6

1 paper

NM_198253.3

p.L397F

c.1189C>T

1 paper

NM_198253.3

p.L397V

c.1189C>G

2 papers

NM_198253.3

p.R390W

c.1168C>T

1 paper

NM_198253.3

p.G398R

c.1192G>C