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.T126A

c.376A>G

Surrounding Variants

1 paper

NM_198253.3

p.T126P

c.376A>C

2 papers

NM_198253.3

p.T126M

c.377C>T

2 papers

NM_198253.3

p.N125N

c.375C>T

3 papers

NM_198253.3

p.N125K

c.375C>G

3 papers

NM_198253.3

p.N125K

c.375C>A

1 paper

NM_198253.3

p.T126K

c.377C>A

1 paper

NM_198253.3

p.V127M

c.379G>A

1 paper

NM_198253.3

p.P124_T126del3

c.370_377del9

4 papers

NM_198253.3

p.P124L

c.371C>T

3 papers

NM_198253.3

p.P124S

c.370C>T

1 paper

NM_198253.3

p.T128S

c.382A>T

1 paper

NM_198253.3

p.T128A

c.382A>G