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.W478R

c.1432T>C

Surrounding Variants

1 paper

NM_198253.3

p.L477L

c.1431C>T

1 paper

NM_198253.3

p.L477insFs

c.1430_1431insT

1 paper

NM_198253.3

p.C468_L477ins3

c.1403_1429dup27

1 paper

NM_198253.3

p.W478*

c.1434G>A

1 paper

NM_198253.3

p.L477F

c.1429C>T

1 paper

NM_198253.3

p.L477V

c.1429C>G

2 papers

NM_198253.3

p.G479D

c.1436G>A

1 paper

NM_198253.3

p.P475L

c.1424C>T

1 paper

NM_198253.3

p.H482N

c.1444C>A

3 papers

NM_198253.3

p.H482fs

c.1444_1445fs

1 paper

NM_198253.3

p.H482P

c.1445A>C

1 paper

NM_198253.3

p.H482H

c.1446C>T