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.R230R

c.690A>G

Surrounding Variants

5 papers

NM_198253.3

p.R230Q

c.689G>A

1 paper

NM_198253.3

p.L216_S229del14

c.646_686del42

1 paper

NM_198253.3

p.R230delFs

c.690delT

2 papers

NM_198253.3

p.R230*

c.688C>T

1 paper

NM_198253.3

p.S229T

c.686G>C

1 paper

NM_198253.3

p.S229C

c.685A>T

1 paper

NM_198253.3

p.L232L

c.696G>A

3 papers

NM_198253.3

p.A228T

c.682G>A

1 paper

NM_198253.3

p.R224_S227del4

c.670_680del12

1 paper

NM_198253.3

p.P233L

c.698C>T

1 paper

NM_198253.3

p.L234L

c.700T>C

1 paper

NM_198253.3

p.S227N

c.680G>A