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.H189H

c.567C>T

Surrounding Variants

2 papers

NM_198253.3

p.H189Q

c.567C>G

2 papers

NM_198253.3

p.H189Q

c.567C>A

1 paper

NM_198253.3

p.A190T

c.568G>A

1 paper

NM_198253.3

p.A190V

c.569C>T

1 paper

NM_198253.3

p.H189fs

c.565_566fs

1 paper

NM_198253.3

p.P188P

c.564A>G

1 paper

NM_198253.3

p.P188ins3

c.563_564ins9

5 papers

NM_198253.3

p.S191T

c.572G>C

2 papers

NM_198253.3

p.S191N

c.572G>A

1 paper

NM_198253.3

p.P188S

c.562C>T

1 paper

NM_198253.3

p.P187delFs

c.560delG

1 paper

NM_198253.3

p.P187fs

c.559_560fs