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

36 papers

NM_198253.3

p.A202T

c.604G>A

Surrounding Variants

1 paper

NM_198253.3

p.R201R

c.603G>A

1 paper

NM_198253.3

p.R201L

c.602G>T

1 paper

NM_198253.3

p.R201P

c.602G>C

1 paper

NM_198253.3

p.W203_N204insA

c.607_611ins3

1 paper

NM_198253.3

p.W203R

c.607T>C

1 paper

NM_198253.3

p.W203R

c.607T>A

1 paper

NM_198253.3

p.R201W

c.601C>T

1 paper

NM_198253.3

p.W203S

c.608G>C

1 paper

NM_198253.3

p.E200D

c.600A>T

1 paper

NM_198253.3

p.W203C

c.609G>T

1 paper

NM_198253.3

p.W203C

c.609G>C

1 paper

NM_198253.3

p.E200insFs

c.599_600insT