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.A130A

c.390A>T

Surrounding Variants

3 papers

NM_198253.3

p.A130V

c.389C>T

1 paper

NM_198253.3

p.L131L

c.391C>T

1 paper

NM_198253.3

p.L131V

c.391C>G

1 paper

NM_198253.3

p.D129_L131delFs

c.385_391del7

1 paper

NM_198253.3

p.R132W

c.394C>T

15 papers

NM_198253.3

p.R132G

c.394C>G

4 papers

NM_198253.3

p.D129V

c.386A>T

1 paper

NM_198253.3

p.D129G

c.386A>G

10 papers

NM_198253.3

p.R132L

c.395G>T

2 papers

NM_198253.3

p.R132Q

c.395G>A

1 paper

NM_198253.3

p.R132delFs

c.394delG

1 paper

NM_198253.3

p.T128delFs

c.384delG