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.K543_F544del0

c.1627_1632del6

Surrounding Variants

2 papers

NM_198253.3

p.F544L

c.1630T>C

1 paper

NM_198253.3

p.H546D

c.1636C>G

1 paper

NM_198253.3

p.H546N

c.1636C>A

1 paper

NM_198253.3

p.K543K

c.1629G>A

1 paper

NM_198253.3

p.H546L

c.1637A>T

1 paper

NM_198253.3

p.H546R

c.1637A>G

1 paper

NM_198253.3

p.H546P

c.1637A>C

2 papers

NM_198253.3

p.A542V

c.1625C>T

1 paper

NM_198253.3

p.A542T

c.1624G>A

1 paper

NM_198253.3

p.L548M

c.1642C>A

1 paper

NM_198253.3

p.L548delFs

c.1643_1644delCA

2 papers

NM_198253.3

p.I540M

c.1620C>G