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.R11R

c.33C>A

Surrounding Variants

1 paper

NM_198253.3

p.R6_R11delFs

c.18_31del14

3 papers

NM_198253.3

p.R11C

c.31C>T

1 paper

NM_198253.3

p.S12F

c.35C>T

4 papers

NM_198253.3

p.S12Y

c.35C>A

2 papers

NM_198253.3

p.V10V

c.30G>A

2 papers

NM_198253.3

p.S12S

c.36C>T

1 paper

NM_198253.3

p.S12fs

c.34_35fs

1 paper

NM_198253.3

p.L13M

c.37C>A

1 paper

NM_198253.3

p.S12_L13delFs

c.36_37delGG

2 papers

NM_198253.3

p.V10L

c.28G>T

1 paper

NM_198253.3

p.A9_V10ins2

c.27_28ins6

2 papers

NM_198253.3

p.V10L

c.28G>C