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

4 papers

NM_198253.3

p.S368F

c.1103C>T

Surrounding Variants

1 paper

NM_198253.3

p.S368Y

c.1103C>A

1 paper

NM_198253.3

p.S368P

c.1102T>C

1 paper

NM_198253.3

p.G356_G367delFs

c.1068_1101del34

1 paper

NM_198253.3

p.G367delFs

c.1100delC

1 paper

NM_198253.3

p.R369S

c.1107G>T

2 papers

NM_198253.3

p.R369S

c.1107G>C

1 paper

NM_198253.3

p.G367S

c.1099G>A

1 paper

NM_198253.3

p.F365L

c.1095T>G

1 paper

NM_198253.3

p.I364I

c.1092C>T

1 paper

NM_198253.3

p.M372I

c.1116G>A

1 paper

NM_198253.3

p.T363T

c.1089C>G

1 paper

NM_198253.3

p.E362D

c.1086G>T