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

30 papers

NM_198253.3

p.K570N

c.1710G>T

Surrounding Variants

30 papers

NM_198253.3

p.K570N

c.1710G>C

2 papers

NM_198253.3

p.K570M

c.1709A>T

1 paper

NM_198253.3

p.K570R

c.1709A>G

2 papers

NM_198253.3

p.K570E

c.1708A>G

1 paper

NM_198253.3

p.N571S

c.1712A>G

1 paper

NM_198253.3

p.R572G

c.1714A>G

1 paper

NM_198253.3

p.R572delFs

c.1714delT

2 papers

NM_198253.3

p.Q569*

c.1705C>T

1 paper

NM_198253.3

p.L573F

c.1717C>T

1 paper

NM_198253.3

p.N571_L573delFs

c.1713_1717del5

1 paper

NM_198253.3

p.T567T

c.1701G>A

1 paper

NM_198253.3

p.L573L

c.1719C>A